| Title |
Milder phenotype with SCN1A truncation mutation other than SMEI. |
| Authors |
Yu MJ, Shi YW, Gao MM, Deng WY, Liu XR, Chen L, Long YS, Yi YH, Liao WP. |
| Reference |
Seizure epub: , 0
(PubMed ID: 20630778 )
|
|
Variations Table
|
Variations Details
|
| Title |
Novel mutation of SCN1A in familial generalized epilepsy with febrile seizures plus. |
| Authors |
Li N, Zhang J, Guo JF, Yan XX, Xia K, Tang BS. |
| Reference |
Neurosci Lett 480(3): 211-214, 2010
(PubMed ID: 20600615 )
|
|
Variations Table
|
Variations Details
|
| Title |
Partial epilepsy with antecedent febrile seizures and seizure aggravation by antiepileptic drugs: Associated with loss of function of Na1.1. |
| Authors |
Liao WP, Shi YW, Long YS, Zeng Y, Li T, Yu MJ, Su T, Deng P, Lei ZG, Xu SJ, Deng WY, Liu XR, Sun WW, Yi YH, Xu ZC, Duan S. |
| Reference |
Epilepsia epub: , 0
(PubMed ID: 20550552 )
|
|
Variations Table
|
Variations Details
|
| Title |
Acute encephalopathy with a truncation mutation in the SCN1A gene: a case report. |
| Authors |
Takayanagi M, Haginoya K, Umehara N, Kitamura T, Numata Y, Wakusawa K, Hino-Fukuyo N, Mazaki E, Yamakawa K, Ohura T, Ohtake M |
| Reference |
Epilepsia epub: , 0
(PubMed ID: 20491869 )
|
|
Variations Table
|
Variations Details
|
| Title |
Hepatic coma culminating in severe brain damage in a child with a SCN1A mutation. |
| Authors |
Nishri D, Blumkin L, Lev D, Leshinsky-Silver E, Abu-Rashid M, Birch R, Zuberi SM, Lerman-Sagie T |
| Reference |
Eur J Paediatr Neurol epub: , 0
(PubMed ID: 20392657 )
|
|
Variations Table
|
Variations Details
|
| Title |
Generalized epilepsy with febrile seizures plus: novel SCN1A mutation. |
| Authors |
Yordanova I, Bojinova V, Jordanova A, Kremenski I. |
| Reference |
Pediatr Neurol. 42(2): 137-140, 2010
(PubMed ID: 20117752 )
|
|
Variations Table
|
Variations Details
|
| Title |
An inherited nonsense R1645X mutation in neuronal sodium channel alpha1-subunit gene in a Turkish patient with severe myoclonic epilepsy of infancy. |
| Authors |
Berdeli A, Serdaroglu G. |
| Reference |
Neuropediatrics 40(2): 82-84, 2009
(PubMed ID: 19809937 )
|
|
Variations Table
|
Variations Details
|
| Title |
SCN1A mutation screening in adult patients with Lennox-Gastaut syndrome features. |
| Authors |
Lund C, Brandal K, Undlien DE, Brodtkorb E. |
| Reference |
Epilepsy Behav. 16(3): 555-557, 2009
(PubMed ID: 19782004 )
|
|
Variations Table
|
Variations Details
|
| Title |
Progressive neurocognitive decline in two children with Dravet syndrome, de novo SCN1A truncations and different epileptic phenotypes. |
| Authors |
Vago C, Pantaleoni C, Bulgheroni S, Mantegazza M, Franceschetti S. |
| Reference |
Am J Med Genet A. 149A(10): 2339-2345, 2009
(PubMed ID: 19764027 )
|
|
Variations Table
|
Variations Details
|
| Title |
A role of SCN9A in human epilepsies, as a cause of febrile seizures and as a potential modifier of Dravet syndrome. |
| Authors |
Pappas C, Dahle EJ, Claes LR, Pruess TH, De Jonghe P, Thompson J, Dixon M, Gurnett C, Peiffer A, White HS, Filloux F, Leppert MF. |
| Reference |
PLoS Genet. 5(9): e1000649, 2009
(PubMed ID: 19763161 )
|
|
Variations Table
|
Variations Details
|
| Title |
Novel human pathological mutations. Gene symbol: SCN1A. Disease: severe myoclonic epilepsy of infancy. |
| Authors |
Mannarino E, Annesi F, De Marco EV, Rocca FE, Greco V, Scornaienchi V, Tarantino P, Civitelli D, Quattrone A, Tortorella G, Annesi G |
| Reference |
Hum Genet 126(2): 337, 2009
(PubMed ID: 19694011 )
|
|
Variations Table
|
Variations Details
|
| Title |
Parental SCN1A mutation mosaicism in familial Dravet syndrome |
| Authors |
Selmer KK, Eriksson A-S, Brandal K, Egeland T, Tallaksen C, Undlien DE |
| Reference |
Clin Genet 76(4): 398-403, 2009
(PubMed ID: 19673951 )
|
|
Variations Table
|
Variations Details
|
| Title |
Novel SCN1A mutations in Indonesian patients with severe myoclonic epilepsy in infancy. |
| Authors |
Herini ES, Gunadi, van Kempen MJ, Yusoff S, Sutaryo, Sunartini, Patria SY, Matsuo M, Lindhout D, Nishio H. |
| Reference |
Pediatr Int 52(2): 234-239, 2010
(PubMed ID: 19563458 )
|
|
Variations Table
|
Variations Details
|
| Title |
Hemiconvulsion-hemiplegia syndrome in a patient with severe myoclonic epilepsy in infancy |
| Authors |
Sakakibara T, Nakagawa E, Saito Y, Sakuma H, Komaki H, Sugai K, Sasaki M, Kurahashi H, Hirose S |
| Reference |
Epilepsia 50(9): 2158-2162, 2009
(PubMed ID: 19563349 )
|
|
Variations Table
|
Variations Details
|
| Title |
Variable neurologic phenotype in a GEFS+ family with a novel mutation in SCN1A |
| Authors |
Mahoney K, Moore SJ, Buckley D, Alam M, Parfrey P, Penney S, Merner N, Hodgkinson K, Young T-L |
| Reference |
Seizure 18(7): 492-497, 2009
(PubMed ID: 19464195 )
|
|
Variations Table
|
Variations Details
|
| Title |
Molecular genetics of migraine. |
| Authors |
de Vries B, Frants RR, Ferrari MD, van den Maagdenberg AM. |
| Reference |
Hum Genet 126(1): 115-132, 2009
(PubMed ID: 19455354 )
|
|
About genetics | |
| Title |
A BAC transgenic mouse model reveals neuron subtype-specific effects of a Generalized Epilepsy with Febrile Seizures Plus (GEFS+) mutation. |
| Authors |
Tang B, Dutt K, Papale L, Rusconi R, Shankar A, Hunter J, Tufik S, Yu FH, Catterall WA, Mantegazza M, Goldin AL, Escayg A. |
| Reference |
Neurobiol Dis 35(1): 91-102, 2009
(PubMed ID: 19409490 )
|
|
Variations Table
|
Variations Details
|
| Title |
A rescuable folding defective Na(v)1.1 (SCN1A) sodium channel mutant causes GEFS+: Common mechanism in Na(v)1.1 related epilepsies? |
| Authors |
Rusconi R, Combi R, Cestèle S, Grioni D, Franceschetti S, Dalprà L, Mantegazza M. |
| Reference |
Hum Mutat 30(7): E747-760, 2009
(PubMed ID: 19402159 )
|
|
Variations Table
|
Variations Details
|
| Title |
SCN1A duplications and deletions detected in Dravet syndrome: Implications for molecular diagnosis. |
| Authors |
Marini C, Scheffer IE, Nabbout R, Mei D, Cox K, Dibbens LM, McMahon JM, Iona X, Carpintero RS, Elia M, Cilio MR, Specchio N, Giordano L, Striano P, Gennaro E, Cross JH, Kivity S, Neufeld MY, Afawi Z, Andermann E, Keene D, Dulac O, Zara F, Berkovic SF, Guerrini R, Mulley JC. |
| Reference |
Epilepsia Epub ahead of print]: , 2009
(PubMed ID: 19400878 )
|
|
Variations Table
|
Variations Details
|
| Title |
Digenic mutations in severe myoclonic epilepsy of infancy. |
| Authors |
Bolszak M, Anttonen AK, Komulainen T, Hinttala R, Pakanen S, Sormunen R, Herva R, Lehesjoki AE, Majamaa K, Rantala H, Uusimaa J. |
| Reference |
Epilepsy Res 85(2-3): 300-304, 2009
(PubMed ID: 19359143 )
|
|
Variations Table
|
Variations Details
|
| Title |
A novel inherited mutation in the voltage sensor region of SCN1A is associated with Panayiotopoulos syndrome in siblings and generalized epilepsy with febrile seizures plus. |
| Authors |
Livingston JH, Cross JH, Mclellan A, Birch R, Zuberi SM. |
| Reference |
J Child Neurol 24(4): 503-508, 2009
(PubMed ID: 19339291 )
|
|
Variations Table
|
Variations Details
|
| Title |
Elicited repetitive daily blindness: a new phenotype associated with hemiplegic migraine and SCN1A mutations. |
| Authors |
Vahedi K, Depienne C, Le Fort D, Riant F, Chaine P, Trouillard O, Gaudric A, Morris MA, Leguern E, Tournier-Lasserve E, Bousser MG |
| Reference |
Neurology 72(13): 1178-1183, 2009
(PubMed ID: 19332696 )
|
|
Variations Table
|
Variations Details
|
| Title |
Addition of verapamil in the treatment of severe myoclonic epilepsy in infancy. |
| Authors |
Iannetti P, Parisi P, Spalice A, Ruggieri M, Zara F. |
| Reference |
Epilepsy Res 85(1): 89-95, 2009
(PubMed ID: 19303743 )
|
|
Variations Table
|
Variations Details
|
| Title |
Does a SCN1A gene mutation confer earlier age of onset of febrile seizures in GEFS+? |
| Authors |
Sijben AE, Sithinamsuwan P, Radhakrishnan A, Badawy RA, Dibbens L, Mazarib A, Lev D, Lerman-Sagie T, Straussberg R, Berkovic SF, Scheffer IE. |
| Reference |
Epilepsia 50(4): 953-956, 2009
(PubMed ID: 19292758 )
|
|
Variations Table
|
Variations Details
|
| Title |
A splice site variant in the sodium channel gene SCN1A confers risk of febrile seizures. |
| Authors |
Schlachter K, Gruber-Sedlmayr U, Stogmann E, Lausecker M, Hotzy C, Balzar J, Schuh E, Baumgartner C, Mueller JC, Illig T, Wichmann HE, Lichtner P, Meitinger T, Strom TM, Zimprich A, Zimprich F. |
| Reference |
Neurology 72(11): 974-978, 2009
(PubMed ID: 19289736 )
|
|
Variations Table
|
Variations Details
|
| Title |
Temperature- and age-dependent seizures in a mouse model of severe myoclonic epilepsy in infancy. |
| Authors |
Oakley JC, Kalume F, Yu FH, Scheuer T, Catterall WA. |
| Reference |
Proc Natl Acad Sci U S A 106(10): 3994-3999, 2009
(PubMed ID: 19234123 )
|
|
About mouse models | |
| Title |
First mutation in the voltage-gated Nav1.1 subunit gene SCN1A with co-occurring familial hemiplegic migraine and epilepsy. |
| Authors |
Castro MJ, Stam AH, Lemos C, de Vries B, Vanmolkot KR, Barros J, Terwindt GM, Frants RR, Sequeiros J, Ferrari MD, Pereira-Monteiro JM, van den Maagdenberg AM. |
| Reference |
Cephalalgia 29(3): 308-313, 2009
(PubMed ID: 19220312 )
|
|
Variations Table
|
Variations Details
|
| Title |
Dravet syndrome or genetic (generalized) epilepsy with febrile seizures plus? |
| Authors |
Scheffer IE, Zhang YH, Jansen FE, Dibbens L. |
| Reference |
Brain Dev 31(5): 394-400, 2009
(PubMed ID: 19203856 )
|
|
About phenotypes | |
| Title |
Molecular basis of severe myoclonic epilepsy in infancy. |
| Authors |
Yamakawa K. |
| Reference |
Brain Dev 31(5): 401-404, 2009
(PubMed ID: 19203854 )
|
|
About genetics | |
| Title |
Clinical and genetic familial study of a large cohort of Italian children with idiopathic epilepsy. |
| Authors |
Combi R, Grioni D, Contri M, Redaelli S, Redaelli F, Bassi MT, Barisani D, Lavitrano ML, Tredici G, Tenchini ML, Bertolini M, Dalprà L. |
| Reference |
Brain Res Bull 79(2): 89-96, 2009
(PubMed ID: 19200853 )
|
|
Variations Table
|
Variations Details
|
| Title |
Familial hemiplegic migraine. |
| Authors |
Barrett CF, van den Maagdenberg AM, Frants RR, Ferrari MD. |
| Reference |
Adv Genet 63: 57-83, 2008
(PubMed ID: 19185185 )
|
|
About genetics | |
| Title |
Translational research in epilepsy genetics: sodium channels in man to interneuronopathy in mouse. |
| Authors |
Mullen SA, Scheffer IE. |
| Reference |
Arch Neurol 66(1): 21-26, 2009
(PubMed ID: 19139296 )
|
|
About mouse models | |
| Title |
Debate: Does genetic information in humans help us treat patients? PRO--genetic information in humans helps us treat patients. CON--genetic information does not help at all. |
| Authors |
Delgado-Escueta AV, Bourgeois BF. |
| Reference |
Epilepsia 49 Suppl 9: 13-24, 2008
(PubMed ID: 19087113 )
|
|
About genetics | |
| Title |
FHM3 in familial hemiplegic migraine is more resistant to mutation than FHM1 and FHM2. |
| Authors |
Wiwanitkit V. |
| Reference |
J Neurol Sci 277(1-2): 76-79, 2009
(PubMed ID: 19007941 )
|
|
About genetics | |
| Title |
Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients. |
| Authors |
Depienne C, Trouillard O, Saint-Martin C, An I, Bouteiller D, Carpentier W, Keren B, Abert B, Gautier A, Baulac S, Arzimanoglou A, Cazeneuve C, Nabbout R, Leguern E. |
| Reference |
J Med Genet 46(3): 183-191, 2009
(PubMed ID: 18930999 )
|
|
Variations Table
|
Variations Details
|
| Title |
Gene symbol: SCN1A. Disease: Generalized epilepsy with febrile seizures plus. |
| Authors |
Sun H, Zhang Y, Liang J, Liu X, Ma X, Wu H, Xu K, Qin J, Qi Y, Wu X. |
| Reference |
Hum Genet 124(3): 298, 2008
(PubMed ID: 18846618 )
|
|
Variations Table
|
Variations Details
|
| Title |
A catalog of SCN1A variants. |
| Authors |
Lossin C. |
| Reference |
Brain Dev 31(2): 114-130, 2009
(PubMed ID: 18804930 )
|
|
About genetics | |
| Title |
Multidrug resistance in epilepsy and polymorphisms in the voltage-gated sodium channel genes SCN1A, SCN2A, and SCN3A: correlation among phenotype, genotype, and mRNA expression. |
| Authors |
Kwan P, Poon WS, Ng HK, Kang DE, Wong V, Ng PW, Lui CH, Sin NC, Wong KS, Baum L. |
| Reference |
Pharmacogenet Genomics 18(11): 989-998, 2008
(PubMed ID: 18784617 )
|
|
Variations Table
|
Variations Details
|
| Title |
Migraine genetics. |
| Authors |
Montagna P. |
| Reference |
Expert Rev Neurother 8(9):: 1321-1330, 2008
(PubMed ID: 18759544 )
|
|
About genetics | |
| Title |
Migraine and epilepsy: genetically linked? |
| Authors |
Haan J, van den Maagdenberg AM, Brouwer OF, Ferrari MD. |
| Reference |
Expert Rev Neurother 8(9): 1307-1311, 2008
(PubMed ID: 18759542 )
|
|
About genetics | |
| Title |
A CACNB4 mutation shows that altered Ca(v)2.1 function may be a genetic modifier of severe myoclonic epilepsy in infancy. |
| Authors |
Ohmori I, Ouchida M, Miki T, Mimaki N, Kiyonaka S, Nishiki T, Tomizawa K, Mori Y, Matsui H. |
| Reference |
Neurobiol Dis 32(3): 349-354, 2008
(PubMed ID: 18755274 )
|
|
Variations Table
|
Variations Details
|
| Title |
Novel SCN1A frameshift mutation with absence of truncated Na(V)1.1 protein in severe myoclonic epilepsy of infancy. |
| Authors |
McArdle EJ, Kunic JD, George AL Jr. |
| Reference |
Am J Med Genet A 146A(18): 2421-2423, 2008
(PubMed ID: 18680191 )
|
|
Variations Table
|
Variations Details
|
| Title |
Identification of the promoter region and the 5'-untranslated exons of the human voltage-gated sodium channel Nav1.1 gene (SCN1A) and enhancement of gene expression by the 5'-untranslated exons. |
| Authors |
Long YS, Zhao QH, Su T, Cai YL, Zeng Y, Shi YW, Yi YH, Chang HH, Liao WP. |
| Reference |
J Neurosci Res 86(15): 3375-81, 2008
(PubMed ID: 18655196 )
|
|
About sodium channels | |
| Title |
Monozygotic twins with severe myoclonic epilepsy in infancy discordant for clinical features. |
| Authors |
Miyama S, Goto T, Inoue Y, Yamakawa K. |
| Reference |
Pediatr Neurol 39(2): 120-122, 2008
(PubMed ID: 18639757 )
|
|
Variations Table
|
Variations Details
|
| Title |
Self-limited hyperexcitability: functional effect of a familial hemiplegic migraine mutation of the Nav1.1 (SCN1A) Na+ channel. |
| Authors |
Cestèle S, Scalmani P, Rusconi R, Terragni B, Franceschetti S, Mantegazza M. |
| Reference |
J Neurosci 28(29): 7273-7283, 2008
(PubMed ID: 18632931 )
|
|
Variations Table
|
Variations Details
|
| Title |
Novel de novo splice-site mutation of SCN1A in a patient with partial epilepsy with febrile seizures plus. |
| Authors |
Kumakura A, Ito M, Hata D, Oh N, Kurahashi H, Wang JW, Hirose S. |
| Reference |
Brain Dev 31(2): 179-182, 2009
(PubMed ID: 18632234 )
|
|
Variations Table
|
Variations Details
|
| Title |
Divergent sodium channel defects in familial hemiplegic migraine. |
| Authors |
Kahlig KM, Rhodes TH, Pusch M, Freilinger T, Pereira-Monteiro JM, Ferrari MD, van den Maagdenberg AM, Dichgans M, George AL Jr. |
| Reference |
Proc Natl Acad Sci U S A 105(28): 9799-9804, 2008
(PubMed ID: 18621678 )
|
|
Variations Table
|
Variations Details
|
| Title |
SCN1A, SCN1B, and GABRG2 gene mutation analysis in Chinese families with generalized epilepsy with febrile seizures plus. |
| Authors |
Sun H, Zhang Y, Liang J, Liu X, Ma X, Wu H, Xu K, Qin J, Qi Y, Wu X. |
| Reference |
J Hum Genet 53(8): 769-774, 2008
(PubMed ID: 18566737 )
|
|
Variations Table
|
Variations Details
|
| Title |
A functional polymorphism in the SCN1A gene is not associated with carbamazepine dosages in Austrian patients with epilepsy. |
| Authors |
Zimprich F, Stogmann E, Bonelli S, Baumgartner C, Mueller JC, Meitinger T, Zimprich A, Strom TM. |
| Reference |
Epilepsia 49(6): 1108-1109, 2008
(PubMed ID: 18554361 )
|
|
Variations Table
|
Variations Details
|
| Title |
Do SCN1A mutations protect from hippocampal sclerosis? |
| Authors |
Auvin S, Dulac O, Vallée L. |
| Reference |
Epilepsia 49(6): 1107-1108, 2008
(PubMed ID: 18554360 )
|
|
About genetics | |
| Title |
Seven novel SCN1A mutations in Chinese patients with severe myoclonic epilepsy of infancy. |
| Authors |
Sun H, Zhang Y, Liang J, Liu X, Ma X, Qin J, Qi Y, Wu X. |
| Reference |
Epilepsia 49(6): 1104-1107, 2008
(PubMed ID: 18554359 )
|
|
Variations Table
|
Variations Details
|
| Title |
Migraine: a genetic disease? |
| Authors |
Montagna P. |
| Reference |
Neurol Sci 29 Suppl 1: S47-51, 2008
(PubMed ID: 18545896 )
|
|
About genetics | |
| Title |
Deletion of the SCN gene cluster on 2q24.4 is associated with severe epilepsy: An array-based genotype-phenotype correlation and a comprehensive review of previously published cases. |
| Authors |
Davidsson J, Collin A, Olsson ME, Lundgren J, Soller M. |
| Reference |
Epilepsy Res 81(1): 69-79, 2008
(PubMed ID: 18539002 )
|
|
Variations Table
|
Variations Details
|
| Title |
Association between SCN1A polymorphism and carbamazepine-resistant epilepsy. |
| Authors |
Abe T, Seo T, Ishitsu T, Nakagawa T, Hori M, Nakagawa K. |
| Reference |
Br J Clin Pharmacol 66(2): 304-307, 2008
(PubMed ID: 18489610 )
|
|
Variations Table
|
Variations Details
|
| Title |
Microchromosomal deletions involving SCN1A and adjacent genes in severe myoclonic epilepsy in infancy. |
| Authors |
Wang JW, Kurahashi H, Ishii A, Kojima T, Ohfu M, Inoue T, Ogawa A, Yasumoto S, Oguni H, Kure S, Fujii T, Ito M, Okuno T, Shirasaka Y, Natsume J, Hasegawa A, Konagaya A, Kaneko S, Hirose S. |
| Reference |
Epilepsia 49(9): 1528-1534, 2008
(PubMed ID: 18479393 )
|
|
Variations Table
|
Variations Details
|
| Title |
Genetics and epilepsy. |
| Authors |
Steinlein OK. |
| Reference |
Dialogues Clin Neurosci 10(1): 29-38, 2008
(PubMed ID: 18472482 )
|
|
About genetics | |
| Title |
Genetics of migraine: an update with special attention to genetic comorbidity. |
| Authors |
Stam AH, van den Maagdenberg AM, Haan J, Terwindt GM, Ferrari MD. |
| Reference |
Curr Opin Neurol 21(3): 288-293, 2008
(PubMed ID: 18451712 )
|
|
About genetics | |
| Title |
Management of and prophylaxis against status epilepticus in children with severe myoclonic epilepsy in infancy (SMEI; Dravet syndrome)--a nationwide questionnaire survey in Japan. |
| Authors |
Tanabe T, Awaya Y, Matsuishi T, Iyoda K, Nagai T, Kurihara M, Yamamoto K, Minagawa K, Maekawa K. |
| Reference |
Brain Dev 30(10): 629-635, 2008
(PubMed ID: 18424028 )
|
|
About treatment | |
| Title |
Cryptogenic epileptic syndromes related to SCN1A: twelve novel mutations identified. |
| Authors |
Zucca C, Redaelli F, Epifanio R, Zanotta N, Romeo A, Lodi M, Veggiotti P, Airoldi G, Panzeri C, Romaniello R, De Polo G, Bonanni P, Cardinali S, Baschirotto C, Martorell L, Borgatti R, Bresolin N, Bassi MT. |
| Reference |
Arch Neurol 65(4): 489-494, 2008
(PubMed ID: 18413471 )
|
|
Variations Table
|
Variations Details
|
| Title |
Focal epilepsy resulting from a de novo SCN1A mutation. |
| Authors |
Okumura A, Kurahashi H, Hirose S, Okawa N, Watanabe K. |
| Reference |
Neuropediatrics 38(5): 253-256, 2007
(PubMed ID: 18330841 )
|
|
Variations Table
|
Variations Details
|
| Title |
Epileptic syndromes in infancy and childhood. |
| Authors |
Nabbout R, Dulac O. |
| Reference |
Curr Opin Neurol 21(2): 161-166, 2008
(PubMed ID: 18317274 )
|
|
About phenotypes | |
| Title |
Balanced translocation in a patient with severe myoclonic epilepsy of infancy disrupts the sodium channel gene SCN1A. |
| Authors |
Møller RS, Schneider LM, Hansen CP, Bugge M, Ullmann R, Tommerup N, Tümer Z. |
| Reference |
Epilepsia 49(6): 1091-1094, 2008
(PubMed ID: 18294202 )
|
|
Variations Table
|
Variations Details
|
| Title |
Two cases of sudden unexpected death in epilepsy in a GEFS+ family with an SCN1A mutation. |
| Authors |
Hindocha N, Nashef L, Elmslie F, Birch R, Zuberi S, Al-Chalabi A, Crotti L, Schwartz PJ, Makoff A. |
| Reference |
Epilepsia 49(2): 360-365, 2008
(PubMed ID: 18251839 )
|
|
Variations Table
|
Variations Details
|
| Title |
Mutation of sodium channel SCN3A in a patient with cryptogenic pediatric partial epilepsy. |
| Authors |
Holland KD, Kearney JA, Glauser TA, Buck G, Keddache M, Blankston JR, Glaaser IW, Kass RS, Meisler MH. |
| Reference |
Neurosci Lett 433(1): 65-70, 2008
(PubMed ID: 18242854 )
|
|
Variations Table
|
Variations Details
|
| Title |
GEFS+ is not related to the most common mutations of SCN1B, SCN1A and GABRG2 in two Tunisian families. |
| Authors |
Mrabet H, Belhedi N, Bouchlaka S, El Gaaied A, Mrabet A. |
| Reference |
Neurol Sci 28(6): 311-314, 2007
(PubMed ID: 18175077 )
|
|
Variations Table
|
Variations Details
|
| Title |
A screening test for the prediction of Dravet syndrome before one year of age. |
| Authors |
Hattori J, Ouchida M, Ono J, Miyake S, Maniwa S, Mimaki N, Ohtsuka Y, Ohmori I. |
| Reference |
Epilepsia 49(4): 626-633, 2008
(PubMed ID: 18076640 )
|
|
Variations Table
|
Variations Details
|
| Title |
Systematic analysis of three FHM genes in 39 sporadic patients with hemiplegic migraine. |
| Authors |
de Vries B, Freilinger T, Vanmolkot KR, Koenderink JB, Stam AH, Terwindt GM, Babini E, van den Boogerd EH, van den Heuvel JJ, Frants RR, Haan J, Pusch M, van den Maagdenberg AM, Ferrari MD, Dichgans M. |
| Reference |
Neurology 69(23): 2170-2176, 2007
(PubMed ID: 18056581 )
|
|
Variations Table
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Variations Details
|
| Title |
Rasmussen encephalitis associated with SCN1A mutation. |
| Authors |
Ohmori I, Ouchida M, Kobayashi K, Jitsumori Y, Inoue T, Shimizu K, Matsui H, Ohtsuka Y, Maegaki Y. |
| Reference |
Epilepsia 49(3): 521-526, 2008
(PubMed ID: 18031552 )
|
|
Variations Table
|
Variations Details
|
| Title |
Severe myoclonic epilepsy in infancy: a systematic review and a meta-analysis of individual patient data. |
| Authors |
Kassaï B, Chiron C, Augier S, Cucherat M, Rey E, Gueyffier F, Guerrini R, Vincent J, Dulac O, Pons G. |
| Reference |
Epilepsia 49(2): 343-348, 2008
(PubMed ID: 18028411 )
|
|
About treatment | |
| Title |
Novel mutation confirms seizure locus SCN1A is also familial hemiplegic migraine locus FHM3. |
| Authors |
Gargus JJ, Tournay A. |
| Reference |
Pediatr Neurol 37(6): 407-410, 2007
(PubMed ID: 18021921 )
|
|
Variations Table
|
Variations Details
|
| Title |
Reduced sodium current in Purkinje neurons from Nav1.1 mutant mice: implications for ataxia in severe myoclonic epilepsy in infancy. |
| Authors |
Kalume F, Yu FH, Westenbroek RE, Scheuer T, Catterall WA. |
| Reference |
J Neurosci 27(41): 11065-11074, 2007
(PubMed ID: 17928448 )
|
|
About mouse models | |
| Title |
Modulatory proteins can rescue a trafficking defective epileptogenic Nav1.1 Na+ channel mutant. |
| Authors |
Rusconi R, Scalmani P, Cassulini RR, Giunti G, Gambardella A, Franceschetti S, Annesi G, Wanke E, Mantegazza M. |
| Reference |
J Neurosci 27(41): 11037-11046, 2007
(PubMed ID: 17928445 )
|
|
Variations Table
|
Variations Details
|
| Title |
Genetic screening of Scandinavian families with febrile seizures and epilepsy or GEFS+. |
| Authors |
Selmer KK, Egeland T, Solaas MH, Nakken KO, Kjeldsen MJ, Friis ML, Brandal K, Corey LA, Undlien DE. |
| Reference |
Acta Neurol Scand 117(4): 289-292, 2008
(PubMed ID: 17927801 )
|
|
Variations Table
|
Variations Details
|
| Title |
Novel de novo mutation of a conserved SCN1A amino-acid residue (R1596). |
| Authors |
Dlugos DJ, Ferraro TN, Buono RJ. |
| Reference |
Pediatr Neurol 37(4): 303-305, 2007
(PubMed ID: 17903680 )
|
|
Variations Table
|
Variations Details
|
| Title |
The voltage-gated sodium channel Scn8a is a genetic modifier of severe myoclonic epilepsy of infancy. |
| Authors |
Martin MS, Tang B, Papale LA, Yu FH, Catterall WA, Escayg A. |
| Reference |
Hum Mol Genet 16(23): 2892-2899, 2007
(PubMed ID: 17881658 )
|
|
About mouse models | |
| Title |
Can fever treat epileptic encephalopathies? |
| Authors |
Pintaudi M, Eisermann MM, Ville D, Plouin P, Dulac O, Kaminska A. |
| Reference |
Epilepsy Res 77(1): 44-61, 2007
(PubMed ID: 17875384 )
|
|
About phenotypes | |
| Title |
SCN1A mutation associated with atypical Panayiotopoulos syndrome. |
| Authors |
Grosso S, Orrico A, Galli L, Di Bartolo R, Sorrentino V, Balestri P. |
| Reference |
Neurology 69(6): 609-611, 2007
(PubMed ID: 17679682 )
|
|
Variations Table
|
Variations Details
|
| Title |
An open-label trial of levetiracetam in severe myoclonic epilepsy of infancy. |
| Authors |
Striano P, Coppola A, Pezzella M, Ciampa C, Specchio N, Ragona F, Mancardi MM, Gennaro E, Beccaria F, Capovilla G, Rasmini P, Besana D, Coppola GG, Elia M, Granata T, Vecchi M, Vigevano F, Viri M, Gaggero R, Striano S, Zara F. |
| Reference |
Neurology 69(3): 250-254, 2007
(PubMed ID: 17636062 )
|
|
About treatment | |
| Title |
Understanding and treating a channelopathy: severe myoclonic epilepsy of infancy. |
| Authors |
Krauss GL, Morrison PF. |
| Reference |
Neurology 69(3): 233-234, 2007
(PubMed ID: 17636058 )
|
|
About treatment | |
| Title |
Dravet syndrome (severe myoclonic epilepsy in infancy): a retrospective study of 16 patients. |
| Authors |
Korff C, Laux L, Kelley K, Goldstein J, Koh S, Nordli D Jr. |
| Reference |
J Child Neurol 22(2): 185-194, 2007
(PubMed ID: 17621480 )
|
|
About phenotypes | |
| Title |
Electroclinical features of a family with simple febrile seizures and temporal lobe epilepsy associated with SCN1A loss-of-function mutation. |
| Authors |
Colosimo E, Gambardella A, Mantegazza M, Labate A, Rusconi R, Schiavon E, Annesi F, Cassulini RR, Carrideo S, Chifari R, Canevini MP, Canger R, Franceschetti S, Annesi G, Wanke E, Quattrone A. |
| Reference |
Epilepsia 48(9): 1691-1696, 2007
(PubMed ID: 17565594 )
|
|
Variations Table
|
Variations Details
|
| Title |
Idiopathic Epilepsies with Seizures Precipitated by Fever and SCN1A Abnormalities. |
| Authors |
Marini C, Mei D, Temudo T, Ferrari AR, Buti D, Dravet C, Dias AI, Moreira A, Calado E, Seri S, Neville B, Narbona J, Reid E, Michelucci R, Sicca F, Cross HJ, Guerrini R. |
| Reference |
Epilepsia 48(9): 1678-1685, 2007
(PubMed ID: 17561957 )
|
|
Variations Table
|
Variations Details
|
| Title |
Characterization of 5' untranslated regions of the voltage-gated sodium channels SCN1A, SCN2A, and SCN3A and identification of cis-conserved noncoding sequences. |
| Authors |
Martin MS, Tang B, Ta N, Escayg A. |
| Reference |
Genomics 90(2): 225-235, 2007
(PubMed ID: 17544618 )
|
|
About genetics | |
| Title |
Na(v)1.1 localizes to axons of parvalbumin-positive inhibitory interneurons: a circuit basis for epileptic seizures in mice carrying an Scn1a gene mutation. |
| Authors |
Ogiwara I, Miyamoto H, Morita N, Atapour N, Mazaki E, Inoue I, Takeuchi T, Itohara S, Yanagawa Y, Obata K, Furuichi T, Hensch TK, Yamakawa K. |
| Reference |
J Neurosci 27(22): 5903-5914, 2007
(PubMed ID: 17537961 )
|
|
Variations Table
|
Variations Details
|
| Title |
Patients with a sodium channel alpha 1 gene mutation show wide phenotypic variation. |
| Authors |
Osaka H, Ogiwara I, Mazaki E, Okamura N, Yamashita S, Iai M, Yamada M, Kurosawa K, Iwamoto H, Yasui-Furukori N, Kaneko S, Fujiwara T, Inoue Y, Yamakawa K. |
| Reference |
Epilepsy Res 75(1): 46-51, 2007
(PubMed ID: 17507202 )
|
|
Variations Table
|
Variations Details
|
| Title |
Gene symbol: SCN1A. |
| Authors |
Combi R, Grioni D, Tenchini ML, Bertolini M, Tredici G, Dalpra L. |
| Reference |
Hum Genet 120(6): 916, 2007
(PubMed ID: 17438620 )
|
|
Variations Table
|
Variations Details
|
| Title |
Gene symbol: SCN1A. |
| Authors |
Combi R, Grioni D, Tenchini ML, Bertolini M, Tredici G, Dalpra L. |
| Reference |
Hum Genet 120(6): 911, 2007
(PubMed ID: 17438605 )
|
|
Variations Table
|
Variations Details
|
| Title |
Nova2 interacts with a cis-acting polymorphism to influence the proportions of drug-responsive splice variants of SCN1A. |
| Authors |
Heinzen EL, Yoon W, Tate SK, Sen A, Wood NW, Sisodiya SM, Goldstein DB. |
| Reference |
Am J Hum Genet 80(5): 876-883, 2007
(PubMed ID: 17436242 )
|
|
Variations Table
|
Variations Details
|
| Title |
The novel p.L1649Q mutation in the SCN1A epilepsy gene is associated with familial hemiplegic migraine: genetic and functional studies. Mutation in brief #957. Online. |
| Authors |
Vanmolkot KR, Babini E, de Vries B, Stam AH, Freilinger T, Terwindt GM, Norris L, Haan J, Frants RR, Ramadan NM, Ferrari MD, Pusch M, van den Maagdenberg AM, Dichgans M. |
| Reference |
Hum Mutat 28(5): 522, 2007
(PubMed ID: 17397047 )
|
|
Variations Table
|
Variations Details
|
| Title |
Channelopathies in idiopathic epilepsy. |
| Authors |
Heron SE, Scheffer IE, Berkovic SF, Dibbens LM, Mulley JC. |
| Reference |
Neurotherapeutics 4(2): 295-304, 2007
(PubMed ID: 17395140 )
|
|
About genetics | |
| Title |
Brain MRI findings in severe myoclonic epilepsy in infancy and genotype-phenotype correlations. |
| Authors |
Striano P, Mancardi MM, Biancheri R, Madia F, Gennaro E, Paravidino R, Beccaria F, Capovilla G, Dalla Bernardina B, Darra F, Elia M, Giordano L, Gobbi G, Granata T, Ragona F, Guerrini R, Marini C, Mei D, Longaretti F, Romeo A, Siri L, Specchio N, Vigevano F, Striano S, Tortora F, Rossi A, Minetti C, Dravet C, Gaggero R, Zara F. |
| Reference |
Epilepsia 48(6): 1092-1096, 2007
(PubMed ID: 17381446 )
|
|
Variations Table
|
Variations Details
|
| Title |
Topiramate in the treatment of highly refractory patients with Dravet syndrome. |
| Authors |
Kröll-Seger J, Portilla P, Dulac O, Chiron C. |
| Reference |
Neuropediatrics 37(6): 325-329, 2006
(PubMed ID: 17357033 )
|
|
About treatment | |
| Title |
The spectrum of SCN1A-related infantile epileptic encephalopathies. |
| Authors |
Harkin LA, McMahon JM, Iona X, Dibbens L, Pelekanos JT, Zuberi SM, Sadleir LG, Andermann E, Gill D, Farrell K, Connolly M, Stanley T, Harbord M, Andermann F, Wang J, Batish SD, Jones JG, Seltzer WK, Gardner A; Infantile Epileptic Encephalopathy Referral Consortium, Sutherland G, Berkovic SF, Mulley JC, Scheffer IE. |
| Reference |
Brain 130(Pt 3): 843-852, 2007
(PubMed ID: 17347258 )
|
|
Variations Table
|
Variations Details
|
| Title |
Stiripentol. |
| Authors |
Chiron C. |
| Reference |
Neurotherapeutics 4(1): 123-125, 2007
(PubMed ID: 17199026 )
|
|
About treatment | |
| Title |
Severe myoclonic epilepsy of infancy (Dravet syndrome): recognition and diagnosis in adults. |
| Authors |
Jansen FE, Sadleir LG, Harkin LA, Vadlamudi L, McMahon JM, Mulley JC, Scheffer IE, Berkovic SF. |
| Reference |
Neurology 67(12): 2224-2226, 2006
(PubMed ID: 17190949 )
|
|
About phenotypes | |
| Title |
Epilepsy: clinical observations and novel mechanisms. |
| Authors |
Spencer S. |
| Reference |
Lancet Neurol 6(1): 14-16, 2007
(PubMed ID: 17166794 )
|
|
Variations Table
|
Variations Details
|
| Title |
Epilepsy with a de novo missense mutation in the sodium channel a1 subunit: a case report. |
| Authors |
Stefanaki E, Aggelakou V, Orfanou M, Kokori E, Boutoufianakis S. |
| Reference |
Acta Paediatr 95(12): 1703-1706, 2006
(PubMed ID: 17129991 )
|
|
Variations Table
|
Variations Details
|
| Title |
Severe myoclonic epilepsy of infants (Dravet syndrome): natural history and neuropsychological findings. |
| Authors |
Wolff M, Cassé-Perrot C, Dravet C. |
| Reference |
Epilepsia 47 Suppl 2: 45-48, 2006
(PubMed ID: 17105460 )
|
|
About phenotypes | |
| Title |
Impaired inactivation gate stabilization predicts increased persistent current for an epilepsy-associated SCN1A mutation. |
| Authors |
Kahlig KM, Misra SN, George AL Jr. |
| Reference |
J Neurosci 26(43): 10958-10966, 2006
(PubMed ID: 17065438 )
|
|
Variations Table
|
Variations Details
|
| Title |
Mosaic SCN1A mutation in familial severe myoclonic epilepsy of infancy. |
| Authors |
Marini C, Mei D, Helen Cross J, Guerrini R. |
| Reference |
Epilepsia 47(10): 1737-1740, 2006
(PubMed ID: 17054697 )
|
|
Variations Table
|
Variations Details
|
| Title |
SCN1A mutation mosaicism in a family with severe myoclonic epilepsy in infancy. |
| Authors |
Morimoto M, Mazaki E, Nishimura A, Chiyonobu T, Sawai Y, Murakami A, Nakamura K, Inoue I, Ogiwara I, Sugimoto T, Yamakawa K. |
| Reference |
Epilepsia 47(10): 1732-1736, 2006
(PubMed ID: 17054696 )
|
|
Variations Table
|
Variations Details
|
| Title |
Nonfunctional SCN1A is common in severe myoclonic epilepsy of infancy. |
| Authors |
Ohmori I, Kahlig KM, Rhodes TH, Wang DW, George AL Jr. |
| Reference |
Epilepsia 47(10): 1636-1642, 2006
(PubMed ID: 17054685 )
|
|
Variations Table
|
Variations Details
|
| Title |
Familial occurrence of febrile seizures and epilepsy in severe myoclonic epilepsy of infancy (SMEI) patients with SCN1A mutations. |
| Authors |
Mancardi MM, Striano P, Gennaro E, Madia F, Paravidino R, Scapolan S, Dalla Bernardina B, Bertini E, Bianchi A, Capovilla G, Darra F, Elia M, Freri E, Gobbi G, Granata T, Guerrini R, Pantaleoni C, Parmeggiani A, Romeo A, Santucci M, Vecchi M, Veggiotti P, Vigevano F, Pistorio A, Gaggero R, Zara F. |
| Reference |
Epilepsia 47(10): 1629-1635, 2006
(PubMed ID: 17054684 )
|
|
Variations Table
|
Variations Details
|
| Title |
Cryptic chromosome deletions involving SCN1A in severe myoclonic epilepsy of infancy. |
| Authors |
Madia F, Striano P, Gennaro E, Malacarne M, Paravidino R, Biancheri R, Budetta M, Cilio MR, Gaggero R, Pierluigi M, Minetti C, Zara F. |
| Reference |
Neurology 67(7): 1230-1235, 2006
(PubMed ID: 17030758 )
|
|
Variations Table
|
Variations Details
|
| Title |
A common polymorphism in the SCN1A gene associates with phenytoin serum levels at maintenance dose. |
| Authors |
Tate SK, Singh R, Hung CC, Tai JJ, Depondt C, Cavalleri GL, Sisodiya SM, Goldstein DB, Liou HH. |
| Reference |
Pharmacogenet Genomics 16(10): 721-726, 2006
(PubMed ID: 17001291 )
|
|
Variations Table
|
Variations Details
|
| Title |
A new molecular mechanism for severe myoclonic epilepsy of infancy: exonic deletions in SCN1A. |
| Authors |
Mulley JC, Nelson P, Guerrero S, Dibbens L, Iona X, McMahon JM, Harkin L, Schouten J, Yu S, Berkovic SF, Scheffer IE. |
| Reference |
Neurology 67(6): 1094-1095, 2006
(PubMed ID: 17000989 )
|
|
Variations Table
|
Variations Details
|
| Title |
Report of the ILAE classification core group. |
| Authors |
Engel J Jr. |
| Reference |
Epilepsia 47(9): 1558-1568, 2006
(PubMed ID: 16981873 )
|
|
About phenotypes | |
| Title |
Reduced sodium current in GABAergic interneurons in a mouse model of severe myoclonic epilepsy in infancy. |
| Authors |
Yu FH, Mantegazza M, Westenbroek RE, Robbins CA, Kalume F, Burton KA, Spain WJ, McKnight GS, Scheuer T, Catterall WA. |
| Reference |
Nat Neurosci 9(9): 1142-1149, 2006
(PubMed ID: 16921370 )
|
|
About mouse models | |
| Title |
Dravet syndrome: a study of 53 patients. |
| Authors |
Caraballo RH, Fejerman N. |
| Reference |
Epilepsy Res 70 Suppl 1: S231-238, 2006
(PubMed ID: 16893627 )
|
|
About phenotypes | |
| Title |
Phenotypes and genotypes in epilepsy with febrile seizures plus. |
| Authors |
Ito M, Yamakawa K, Sugawara T, Hirose S, Fukuma G, Kaneko S. |
| Reference |
Epilepsy Res 70(s1): S199-205, 2006
(PubMed ID: 16884893 )
|
|
Variations Table
|
Variations Details
|
| Title |
Migrainous vertigo: mutation analysis of the candidate genes CACNA1A, ATP1A2, SCN1A, and CACNB4. |
| Authors |
von Brevern M, Ta N, Shankar A, Wiste A, Siegel A, Radtke A, Sander T, Escayg A. |
| Reference |
Headache 46(7): 1136-1141, 2006
(PubMed ID: 16866717 )
|
|
Variations Table
|
Variations Details
|
| Title |
Microdeletions involving the SCN1A gene may be common in SCN1A-mutation-negative SMEI patients. |
| Authors |
Suls A, Claeys KG, Goossens D, Harding B, Van Luijk R, Scheers S, Deprez L, Audenaert D, Van Dyck T, Beeckmans S, Smouts I, Ceulemans B, Lagae L, Buyse G, Barisic N, Misson JP, Wauters J, Del-Favero J, De Jonghe P, Claes LR. |
| Reference |
Hum Mutat 27(9): 914-920, 2006
(PubMed ID: 16865694 )
|
|
Variations Table
|
Variations Details
|
| Title |
Na channel gene mutations in epilepsy--the functional consequences. |
| Authors |
Yamakawa K. |
| Reference |
Epilepsy Res 70 Suppl 1: S218-222, 2006
(PubMed ID: 16806834 )
|
|
About function | |
| Title |
Clinical spectrum of mutations in SCN1A gene: severe myoclonic epilepsy in infancy and related epilepsies. |
| Authors |
Fujiwara T. |
| Reference |
Epilepsy Res 70 Suppl 1: S223-230, 2006
(PubMed ID: 16806826 )
|
|
About phenotypes | |
| Title |
De-novo mutations of the sodium channel gene SCN1A in alleged vaccine encephalopathy: a retrospective study. |
| Authors |
Berkovic SF, Harkin L, McMahon JM, Pelekanos JT, Zuberi SM, Wirrell EC, Gill DS, Iona X, Mulley JC, Scheffer IE. |
| Reference |
Lancet Neurol 5(6): 488-492, 2006
(PubMed ID: 16713920 )
|
|
Variations Table
|
Variations Details
|
| Title |
Demystifying vaccination-associated encephalopathy. |
| Authors |
Sell E, Minassian BA. |
| Reference |
Lancet Neurol 5(6): 465-466, 2006
(PubMed ID: 16713913 )
|
|
Variations Table
|
Variations Details
|
| Title |
Relationship between migraine and epilepsy in pediatric age. |
| Authors |
Piccinelli P, Borgatti R, Nicoli F, Calcagno P, Bassi MT, Quadrelli M, Rossi G, Lanzi G, Balottin U. |
| Reference |
Headache 46(3): 413-421, 2006
(PubMed ID: 16618257 )
|
|
About phenotypes | |
| Title |
Parental mosaicism can cause recurrent transmission of SCN1A mutations associated with severe myoclonic epilepsy of infancy. |
| Authors |
Depienne C, Arzimanoglou A, Trouillard O, Fedirko E, Baulac S, Saint-Martin C, Ruberg M, Dravet C, Nabbout R, Baulac M, Gourfinkel-An I, LeGuern E. |
| Reference |
Hum Mutat 27(4): 389, 2006
(PubMed ID: 16541393 )
|
|
Variations Table
|
Variations Details
|
| Title |
An epilepsy mutation in the sodium channel SCN1A that decreases channel excitability. |
| Authors |
Barela AJ, Waddy SP, Lickfett JG, Hunter J, Anido A, Helmers SL, Goldin AL, Escayg A. |
| Reference |
J Neurosci 26(10): 2714-2723, 2006
(PubMed ID: 16525050 )
|
|
Variations Table
|
Variations Details
|
| Title |
The ketogenic diet: from molecular mechanisms to clinical effects. |
| Authors |
Freeman J, Veggiotti P, Lanzi G, Tagliabue A, Perucca E; Institute of Neurology IRCCS C. Mondino Foundation. |
| Reference |
Epilepsy Res 68(2): 145-180, 2006
(PubMed ID: 16523530 )
|
|
About treatment | |
| Title |
Delineation of a 2q deletion in a girl with dysmorphic features and epilepsy. |
| Authors |
Langer S, Geigl JB, Wagenstaller J, Lederer G, Hempel M, Daumer-Haas C, Leifheit HJ, Speicher MR. |
| Reference |
Am J Med Genet A 140(7): 764-768, 2006
(PubMed ID: 16523518 )
|
|
About phenotypes | |
| Title |
SCN1A (2528delG) novel truncating mutation with benign outcome of severe myoclonic epilepsy of infancy. |
| Authors |
Buoni S, Orrico A, Galli L, Zannolli R, Burroni L, Hayek J, Fois A, Sorrentino V. |
| Reference |
Neurology 66(4): 606-607, 2006
(PubMed ID: 16505326 )
|
|
Variations Table
|
Variations Details
|
| Title |
Panayiotopoulos syndrome: a consensus view. |
| Authors |
Ferrie C, Caraballo R, Covanis A, Demirbilek V, Dervent A, Kivity S, Koutroumanidis M, Martinovic Z, Oguni H, Verrotti A, Vigevano F, Watanabe K, Yalcin D, Yoshinaga H. |
| Reference |
Dev Med Child Neurol 48(3): 236-240, 2006
(PubMed ID: 16483404 )
|
|
About phenotypes | |
| Title |
Recurrent de novo mutations of SCN1A in severe myoclonic epilepsy of infancy. |
| Authors |
Kearney JA, Wiste AK, Stephani U, Trudeau MM, Siegel A, RamachandranNair R, Elterman RD, Muhle H, Reinsdorf J, Shields WD, Meisler MH, Escayg A. |
| Reference |
Pediatr Neurol 34(2): 116-120, 2006
(PubMed ID: 16458823 )
|
|
Variations Table
|
Variations Details
|
| Title |
Somatic and germline mosaicisms in severe myoclonic epilepsy of infancy. |
| Authors |
Gennaro E, Santorelli FM, Bertini E, Buti D, Gaggero R, Gobbi G, Lini M, Granata T, Freri E, Parmeggiani A, Striano P, Veggiotti P, Cardinali S, Bricarelli FD, Minetti C, Zara F. |
| Reference |
Biochem Biophys Res Commun 341(2): 489-493, 2006
(PubMed ID: 16430863 )
|
|
Variations Table
|
Variations Details
|
| Title |
International Union of Pharmacology. XLVII. Nomenclature and structure-function relationships of voltage-gated sodium channels. |
| Authors |
Catterall WA, Goldin AL, Waxman SG. |
| Reference |
Pharmacol Rev 57(4): 397-409, 2005
(PubMed ID: 16382098 )
|
|
About sodium channels | |
| Title |
Single-channel properties of human NaV1.1 and mechanism of channel dysfunction in SCN1A-associated epilepsy. |
| Authors |
Vanoye CG, Lossin C, Rhodes TH, George AL Jr. |
| Reference |
J Gen Physiol 127(1): 1-14, 2006
(PubMed ID: 16380441 )
|
|
Variations Table
|
Variations Details
|
| Title |
Neonatal epilepsy syndromes and GEFS+: mechanistic considerations. |
| Authors |
Burgess DL. |
| Reference |
Epilepsia 46 Suppl 10: 51-58, 2005
(PubMed ID: 16359473 )
|
|
About genetics | |
| Title |
Neonatal epilepsy syndromes and generalized epilepsy with febrile seizures plus (GEFS+). |
| Authors |
Scheffer IE, Harkin LA, Dibbens LM, Mulley JC, Berkovic SF. |
| Reference |
Epilepsia 46 Suppl 10: 41-47, 2005
(PubMed ID: 16359471 )
|
|
About phenotypes | |
| Title |
A case of extended spectrum GEFS+. |
| Authors |
Grant AC, Vazquez B. |
| Reference |
Epilepsia 46(s10): 39-40, 2005
(PubMed ID: 16359470 )
|
|
Variations Table
|
Variations Details
|
| Title |
Identification of an Nav1.1 sodium channel (SCN1A) loss-of-function mutation associated with familial simple febrile seizures. |
| Authors |
Mantegazza M, Gambardella A, Rusconi R, Schiavon E, Annesi F, Cassulini RR, Labate A, Carrideo S, Chifari R, Canevini MP, Canger R, Franceschetti S, Annesi G, Wanke E, Quattrone A. |
| Reference |
Proc Natl Acad Sci U S A 102(50): 18177-18182, 2005
(PubMed ID: 16326807 )
|
|
Variations Table
|
Variations Details
|
| Title |
Sacred disease secrets revealed: the genetics of human epilepsy. |
| Authors |
Turnbull J, Lohi H, Kearney JA, Rouleau GA, Delgado-Escueta AV, Meisler MH, Cossette P, Minassian BA. |
| Reference |
Hum Mol Genet 14 Spec No. 2: 2491-2500, 2005
(PubMed ID: 16278970 )
|
|
About genetics | |
| Title |
Sodium channel dysfunction in intractable childhood epilepsy with generalized tonic-clonic seizures. |
| Authors |
Rhodes TH, Vanoye CG, Ohmori I, Ogiwara I, Yamakawa K, George AL Jr. |
| Reference |
J Physiol 569(Pt 2): 433-445, 2005
(PubMed ID: 16210358 )
|
|
Variations Table
|
Variations Details
|
| Title |
Ketogenic diet in patients with Dravet syndrome. |
| Authors |
Caraballo RH, Cersósimo RO, Sakr D, Cresta A, Escobal N, Fejerman N. |
| Reference |
Epilepsia 46(9): 1539-1544, 2005
(PubMed ID: 16146451 )
|
|
About treatment | |
| Title |
A missense mutation in SCN1A in brothers with severe myoclonic epilepsy in infancy (SMEI) inherited from a father with febrile seizures. |
| Authors |
Kimura K, Sugawara T, Mazaki-Miyazaki E, Hoshino K, Nomura Y, Tateno A, Hachimori K, Yamakawa K, Segawa M. |
| Reference |
Brain Dev 27(6): 424-430, 2005
(PubMed ID: 16122630 )
|
|
Variations Table
|
Variations Details
|
| Title |
Ion channel defects in idiopathic epilepsies. |
| Authors |
Lerche H, Weber YG, Jurkat-Rott K, Lehmann-Horn F. |
| Reference |
Curr Pharm Des 11(21): 2737-2752, 2005
(PubMed ID: 16101452 )
|
|
About genetics | |
| Title |
Sodium channel mutations in epilepsy and other neurological disorders. |
| Authors |
Meisler MH, Kearney JA. |
| Reference |
J Clin Invest 115(8): 2010-2017, 2005
(PubMed ID: 16075041 )
|
|
About genetics | |
| Title |
Mutation in the neuronal voltage-gated sodium channel SCN1A in familial hemiplegic migraine. |
| Authors |
Dichgans M, Freilinger T, Eckstein G, Babini E, Lorenz-Depiereux B, Biskup S, Ferrari MD, Herzog J, van den Maagdenberg AM, Pusch M, Strom TM. |
| Reference |
Lancet 366(9483): 371-377, 2005
(PubMed ID: 16054936 )
|
|
Variations Table
|
Variations Details
|
| Title |
Another migraine gene. |
| Authors |
Goadsby PJ, Kullmann DM. |
| Reference |
Lancet 366(9483): 345-346, 2005
(PubMed ID: 16054921 )
|
|
Variations Table
|
Variations Details
|
| Title |
Stiripentol. |
| Authors |
Chiron C. |
| Reference |
Expert Opin Investig Drugs 14(7): 905-911, 2005
(PubMed ID: 16022579 )
|
|
About treatment | |
| Title |
SCN1A mutation analysis in myoclonic astatic epilepsy and severe idiopathic generalized epilepsy of infancy with generalized tonic-clonic seizures. |
| Authors |
Ebach K, Joos H, Doose H, Stephani U, Kurlemann G, Fiedler B, Hahn A, Hauser E, Hundt K, Holthausen H, Müller U, Neubauer BA. |
| Reference |
Neuropediatrics 36(3): 210-213, 2005
(PubMed ID: 15944908 )
|
|
Variations Table
|
Variations Details
|
| Title |
SCN1A mutations and epilepsy. |
| Authors |
Mulley JC, Scheffer IE, Petrou S, Dibbens LM, Berkovic SF, Harkin LA. |
| Reference |
Hum Mutat 25(6): 535-542, 2005
(PubMed ID: 15880351 )
|
|
About genetics | |
| Title |
Hippocampal sclerosis in severe myoclonic epilepsy in infancy: a retrospective MRI study. |
| Authors |
Siegler Z, Barsi P, Neuwirth M, Jerney J, Kassay M, Janszky J, Paraicz E, Hegyi M, Fogarasi A. |
| Reference |
Epilepsia 46(5): 704-708, 2005
(PubMed ID: 15857436 )
|
|
About phenotypes | |
| Title |
Genetic predictors of the maximum doses patients receive during clinical use of the anti-epileptic drugs carbamazepine and phenytoin. |
| Authors |
Tate SK, Depondt C, Sisodiya SM, Cavalleri GL, Schorge S, Soranzo N, Thom M, Sen A, Shorvon SD, Sander JW, Wood NW, Goldstein DB. |
| Reference |
Proc Natl Acad Sci U S A 102(15): 5507-5512, 2005
(PubMed ID: 15805193 )
|
|
Variations Table
|
Variations Details
|
| Title |
A family of generalized epilepsy with febrile seizures plus type 2-a new missense mutation of SCN1A found in the pedigree of several patients with complex febrile seizures. |
| Authors |
Nagao Y, Mazaki-Miyazaki E, Okamura N, Takagi M, Igarashi T, Yamakawa K. |
| Reference |
Epilepsy Res 63(2-3): 151-156, 2005
(PubMed ID: 15715999 )
|
|
Variations Table
|
Variations Details
|
| Title |
A novel SCN1A mutation associated with severe GEFS+ in a large South American pedigree. |
| Authors |
Pineda-Trujillo N, Carrizosa J, Cornejo W, Arias W, Franco C, Cabrera D, Bedoya G, Ruíz-Linares A. |
| Reference |
Seizure 14(2): 132-128, 2005
(PubMed ID: 15694566 )
|
|
Variations Table
|
Variations Details
|
| Title |
Epilepsy and sodium channel gene mutations: gain or loss of function? |
| Authors |
Yamakawa K. |
| Reference |
Neuroreport 16(1): 1-3, 2005
(PubMed ID: 15618878 )
|
|
About genetics | |
| Title |
Severe myoclonic epilepsy in infancy: toward an optimal treatment. |
| Authors |
Ceulemans B, Boel M, Claes L, Dom L, Willekens H, Thiry P, Lagae L. |
| Reference |
J Child Neurol 19(7): 516-521, 2004
(PubMed ID: 15526956 )
|
|
About treatment | |
| Title |
A novel epilepsy mutation in the sodium channel SCN1A identifies a cytoplasmic domain for beta subunit interaction. |
| Authors |
Spampanato J, Kearney JA, de Haan G, McEwen DP, Escayg A, Aradi I, MacDonald BT, Levin SI, Soltesz I, Benna P, Montalenti E, Isom LL, Goldin AL, Meisler MH. |
| Reference |
J Neurosci 24(44): 10022-10034, 2004
(PubMed ID: 15525788 )
|
|
Variations Table
|
Variations Details
|
| Title |
Treatment of myoclonic epilepsies of childhood, adolescence, and adulthood. |
| Authors |
Medina MT, Martínez-Juárez IE, Durón RM, Genton P, Guerrini R, Dravet C, Bureau M, Perez-Gosiengfiao KT, Amador C, Bailey JN, Chaves-Sell F, Delgado-Escueta AV. |
| Reference |
Adv Neurol 95: 307-323, 2005
(PubMed ID: 15508934 )
|
|
About treatment | |
| Title |
Ketogenic diet in patients with Dravet syndrome and myoclonic epilepsies in infancy and early childhood. |
| Authors |
Fejerman N, Caraballo R, Cersosimo R. |
| Reference |
Adv Neurol 95: 299-305, 2005
(PubMed ID: 15508933 )
|
|
About treatment | |
| Title |
Treatment of myoclonic epilepsies in infancy and early childhood. |
| Authors |
Sankar R, Wheless JW, Dravet C, Guerrini R, Medina MT, Bureau M, Genton P, Delgado-Escueta AV. |
| Reference |
Adv Neurol 95: 289-298, 2005
(PubMed ID: 15508932 )
|
|
About treatment | |
| Title |
Severe myoclonic epilepsy in infancy: clinical analysis and relation to SCN1A mutations in a Japanese cohort. |
| Authors |
Oguni H, Hayashi K, Osawa M, Awaya Y, Fukuyama Y, Fukuma G, Hirose S, Mitsudome A, Kaneko S. |
| Reference |
Adv Neurol 95: 103-117, 2005
(PubMed ID: 15508916 )
|
|
Variations Table
|
Variations Details
|
| Title |
Severe myoclonic epilepsy in infancy: Dravet syndrome. |
| Authors |
Dravet C, Bureau M, Oguni H, Fukuyama Y, Cokar O. |
| Reference |
Adv Neurol 95: 71-102, 2005
(PubMed ID: 15508915 )
|
|
About phenotypes | |
| Title |
Severe myoclonic epilepsy in infancy. Relevance for the clinician of severe epilepsy starting in infancy. |
| Authors |
Ceulemans B, Cras P. |
| Reference |
Acta Neurol Belg 104(3): 95-99, 2004
(PubMed ID: 15508261 )
|
|
About treatment | |
| Title |
SCN1A in SMEI, ICEGTC, and GEFS+: Alphabet Soup or Emerging Genotypic-Phenotypic Clarity? |
| Authors |
Stafstrom CE. |
| Reference |
Epilepsy Curr 3(6): 219-220, 2003
(PubMed ID: 15346159 )
|
|
Variations Table
|
Variations Details
|
| Title |
Elicited repetitive daily blindness: a new familial disorder related to migraine and epilepsy. |
| Authors |
Le Fort D, Safran AB, Picard F, Bouchardy I, Morris MA. |
| Reference |
Neurology 63(2): 348-350, 2004
(PubMed ID: 15277634 )
|
|
Variations Table
|
Variations Details
|
| Title |
Effect of localization of missense mutations in SCN1A on epilepsy phenotype severity. |
| Authors |
Kanai K, Hirose S, Oguni H, Fukuma G, Shirasaka Y, Miyajima T, Wada K, Iwasa H, Yasumoto S, Matsuo M, Ito M, Mitsudome A, Kaneko S. |
| Reference |
Neurology 63(2): 329-334, 2004
(PubMed ID: 15277629 )
|
|
Variations Table
|
Variations Details
|
| Title |
Noninactivating voltage-gated sodium channels in severe myoclonic epilepsy of infancy. |
| Authors |
Rhodes TH, Lossin C, Vanoye CG, Wang DW, George AL Jr. |
| Reference |
Proc Natl Acad Sci U S A 101(30): 11147-11152, 2004
(PubMed ID: 15263074 )
|
|
Variations Table
|
Variations Details
|
| Title |
Severe epilepsy, retardation, and dysmorphic features with a 2q deletion including SCN1A and SCN2A. |
| Authors |
Pereira S, Vieira JP, Barroca F, Roll P, Carvalhas R, Cau P, Sequeira S, Genton P, Szepetowski P. |
| Reference |
Neurology 63(1): 191-192, 2004
(PubMed ID: 15249644 )
|
|
About genetics | |
| Title |
Fever, genes, and epilepsy. |
| Authors |
Baulac S, Gourfinkel-An I, Nabbout R, Huberfeld G, Serratosa J, Leguern E, Baulac M. |
| Reference |
Lancet Neurol 3(7): 421-430, 2004
(PubMed ID: 15207799 )
|
|
About genetics | |
| Title |
Genes and mutations in human idiopathic epilepsy. |
| Authors |
Steinlein OK. |
| Reference |
Brain Dev 26(4): 213-218, 2004
(PubMed ID: 15130686 )
|
|
About genetics | |
| Title |
Genetic mechanisms that underlie epilepsy. |
| Authors |
Steinlein OK. |
| Reference |
Nat Rev Neurosci 5(5): 400-408, 2004
(PubMed ID: 15100722 )
|
|
About genetics | |
| Title |
Clinical correlations of mutations in the SCN1A gene: from febrile seizures to severe myoclonic epilepsy in infancy. |
| Authors |
Ceulemans BP, Claes LR, Lagae LG. |
| Reference |
Pediatr Neurol 30(4): 236-243, 2004
(PubMed ID: 15087100 )
|
|
Variations Table
|
Variations Details
|
| Title |
Febrile seizures and mesial temporal sclerosis. |
| Authors |
Cendes F. |
| Reference |
Curr Opin Neurol 17(2): 161-164, 2004
(PubMed ID: 15021243 )
|
|
About phenotypes | |
| Title |
Generalized epilepsy with febrile seizures plus (GEFS+): clinical spectrum in seven Italian families unrelated to SCN1A, SCN1B, and GABRG2 gene mutations. |
| Authors |
Bonanni P, Malcarne M, Moro F, Veggiotti P, Buti D, Ferrari AR, Parrini E, Mei D, Volzone A, Zara F, Heron SE, Bordo L, Marini C, Guerrini R. |
| Reference |
Epilepsia 45(2): 149-158, 2004
(PubMed ID: 14738422 )
|
|
Variations Table
|
Variations Details
|
| Title |
Mutations of neuronal voltage-gated Na+ channel alpha 1 subunit gene SCN1A in core severe myoclonic epilepsy in infancy (SMEI) and in borderline SMEI (SMEB). |
| Authors |
Fukuma G, Oguni H, Shirasaka Y, Watanabe K, Miyajima T, Yasumoto S, Ohfu M, Inoue T, Watanachai A, Kira R, Matsuo M, Muranaka H, Sofue F, Zhang B, Kaneko S, Mitsudome A, Hirose S. |
| Reference |
Epilepsia 45(2): 140-148, 2004
(PubMed ID: 14738421 )
|
|
Variations Table
|
Variations Details
|
| Title |
Epileptic encephalopathies with myoclonic seizures in infants and children (severe myoclonic epilepsy and myoclonic-astatic epilepsy). |
| Authors |
Guerrini R, Aicardi J. |
| Reference |
J Clin Neurophysiol 20(6): 449-461, 2003
(PubMed ID: 14734934 )
|
|
About genetics | |
| Title |
Epileptic encephalopathies: a brief overview. |
| Authors |
Nabbout R, Dulac O. |
| Reference |
J Clin Neurophysiol 20(6): 393-397, 2003
(PubMed ID: 14734929 )
|
|
About phenotypes | |
| Title |
Increased neuronal firing in computer simulations of sodium channel mutations that cause generalized epilepsy with febrile seizures plus. |
| Authors |
Spampanato J, Aradi I, Soltesz I, Goldin AL. |
| Reference |
Neurophysiol 91(5): 2040-2050, 2004
(PubMed ID: 14702334 )
|
|
Variations Table
|
Variations Details
|
| Title |
Epilepsy-associated dysfunction in the voltage-gated neuronal sodium channel SCN1A. |
| Authors |
Lossin C, Rhodes TH, Desai RR, Vanoye CG, Wang D, Carniciu S, Devinsky O, George AL Jr. |
| Reference |
J Neurosci 23(26): 11289-11295, 2003
(PubMed ID: 14672992 )
|
|
Variations Table
|
Variations Details
|
| Title |
The impact of splice isoforms on voltage-gated calcium channel alpha1 subunits. |
| Authors |
Jurkat-Rott K, Lehmann-Horn F. |
| Reference |
J Physiol 554(Pt 3): 609-619, 2004
(PubMed ID: 14645450 )
|
|
About sodium channels | |
| Title |
Absence of mutations in major GEFS+ genes in myoclonic astatic epilepsy. |
| Authors |
Nabbout R, Kozlovski A, Gennaro E, Bahi-Buisson N, Zara F, Chiron C, Bianchi A, Brice A, Leguern E, Dulac O. |
| Reference |
Epilepsy Res 56(2-3): 127-133, 2003
(PubMed ID: 14642997 )
|
|
Variations Table
|
Variations Details
|
| Title |
Sodium channel alpha1-subunit mutations in severe myoclonic epilepsy of infancy and infantile spasms. |
| Authors |
Wallace RH, Hodgson BL, Grinton BE, Gardiner RM, Robinson R, Rodriguez-Casero V, Sadleir L, Morgan J, Harkin LA, Dibbens LM, Yamamoto T, Andermann E, Mulley JC, Berkovic SF, Scheffer IE. |
| Reference |
Neurology 61(6): 765-769, 2003
(PubMed ID: 14504318 )
|
|
Variations Table
|
Variations Details
|
| Title |
Is phenotype difference in severe myoclonic epilepsy in infancy related to SCN1A mutations? |
| Authors |
Ohmori I, Ohtsuka Y, Ouchida M, Ogino T, Maniwa S, Shimizu K, Oka E. |
| Reference |
Brain Dev 25(7): 488-493, 2003
(PubMed ID: 13129592 )
|
|
Variations Table
|
Variations Details
|
| Title |
Two novel SCN1A missense mutations in generalized epilepsy with febrile seizures plus. |
| Authors |
Annesi G, Gambardella A, Carrideo S, Incorpora G, Labate A, Pasqua AA, Civitelli D, Polizzi A, Annesi F, Spadafora P, Tarantino P, Ciro Candiano IC, Romeo N, De Marco EV, Ventura P, LePiane E, Zappia M, Aguglia U, Pavone L, Quattrone A. |
| Reference |
Epilepsia 44(9): 1257-1258, 2003
(PubMed ID: 12919402 )
|
|
Variations Table
|
Variations Details
|
| Title |
Paroxysmal movement disorders in severe myoclonic epilepsy in infancy. |
| Authors |
Ohtsuka Y, Ohmori I, Ogino T, Ouchida M, Shimizu K, Oka E. |
| Reference |
Brain Dev 25(6): 401-405, 2003
(PubMed ID: 12907273 )
|
|
Variations Table
|
Variations Details
|
| Title |
Selection and evaluation of tagging SNPs in the neuronal-sodium-channel gene SCN1A: implications for linkage-disequilibrium gene mapping. |
| Authors |
Weale ME, Depondt C, Macdonald SJ, Smith A, Lai PS, Shorvon SD, Wood NW, Goldstein DB. |
| Reference |
Am J Hum Genet 73(3): 551-565, 2003
(PubMed ID: 12900796 )
|
|
Variations Table
|
Variations Details
|
| Title |
The genetics of febrile seizures and related epilepsy syndromes. |
| Authors |
Hirose S, Mohney RP, Okada M, Kaneko S, Mitsudome A. |
| Reference |
Brain Dev. 25(5): 304-312, 2003
(PubMed ID: 12850508 )
|
|
About genetics | |
| Title |
Nav1.1 channels with mutations of severe myoclonic epilepsy in infancy display attenuated currents. |
| Authors |
Sugawara T, Tsurubuchi Y, Fujiwara T, Mazaki-Miyazaki E, Nagata K, Montal M, Inoue Y, Yamakawa K. |
| Reference |
Epilepsy Res 54(2-3): 201-207, 2003
(PubMed ID: 12837571 )
|
|
Variations Table
|
Variations Details
|
| Title |
Spectrum of SCN1A mutations in severe myoclonic epilepsy of infancy. |
| Authors |
Nabbout R, Gennaro E, Dalla Bernardina B, Dulac O, Madia F, Bertini E, Capovilla G, Chiron C, Cristofori G, Elia M, Fontana E, Gaggero R, Granata T, Guerrini R, Loi M, La Selva L, Lispi ML, Matricardi A, Romeo A, Tzolas V, Valseriati D, Veggiotti P, Vigevano F, Vallee L, Dagna Bricarelli F, Bianchi A, Zara F. |
| Reference |
Neurology 60(12): 1961-1967, 2003
(PubMed ID: 12821740 )
|
|
Variations Table
|
Variations Details
|
| Title |
Familial severe myoclonic epilepsy of infancy: truncation of Nav1.1 and genetic heterogeneity. |
| Authors |
Gennaro E, Veggiotti P, Malacarne M, Madia F, Cecconi M, Cardinali S, Cassetti A, Cecconi I, Bertini E, Bianchi A, Gobbi G, Zara F. |
| Reference |
Epileptic Disord 5(1): 21-25, 2003
(PubMed ID: 12773292 )
|
|
Variations Table
|
Variations Details
|
| Title |
De novo SCN1A mutations are a major cause of severe myoclonic epilepsy of infancy. |
| Authors |
Claes L, Ceulemans B, Audenaert D, Smets K, Lofgren A, Del-Favero J, Ala-Mello S, Basel-Vanagaite L, Plecko B, Raskin S, Thiry P, Wolf NI, Van Broeckhoven C, De Jonghe P. |
| Reference |
Human Mutation 21(6): 615-621, 2003
(PubMed ID: 12754708 )
|
|
Variations Table
|
Variations Details
|
| Title |
The lack of association between febrile convulsions and polymorphisms in SCN1A. |
| Authors |
Chou IC, Peng CT, Tsai FJ, Huang CC, Shi YR, Tsai CH. |
| Reference |
Epilepsy Res 54(1): 53-57, 2003
(PubMed ID: 12742596 )
|
|
Variations Table
|
Variations Details
|
| Title |
Sodium channels SCN1A, SCN2A and SCN3A in familial autism. |
| Authors |
Weiss LA, Escayg A, Kearney JA, Trudeau M, MacDonald BT, Mori M, Reichert J, Buxbaum JD, Meisler MH. |
| Reference |
Mol Psychiatry 8(2): 186-194, 2003
(PubMed ID: 12610651 )
|
|
Variations Table
|
Variations Details
|
| Title |
Functional characterization of the D188V mutation in neuronal voltage-gated sodium channel causing generalized epilepsy with febrile seizures plus (GEFS). |
| Authors |
Cossette P, Loukas A, Lafrenière RG, Rochefort D, Harvey-Girard E, Ragsdale DS, Dunn RJ, Rouleau GA. |
| Reference |
Epilepsy Res 53(1-2): 107-117, 2003
(PubMed ID: 12576172 )
|
|
Variations Table
|
Variations Details
|
| Title |
Mutations of sodium channel alpha subunit type 1 (SCN1A) in intractable childhood epilepsies with frequent generalized tonic-clonic seizures. |
| Authors |
Fujiwara T, Sugawara T, Mazaki-Miyazaki E, Takahashi Y, Fukushima K, Watanabe M, Hara K, Morikawa T, Yagi K, Yamakawa K, Inoue Y |
| Reference |
Brain 126(Pt 3): 531-546, 2003
(PubMed ID: 12566275 )
|
|
Variations Table
|
Variations Details
|
| Title |
Severe infantile epilepsies: molecular genetics challenge clinical classification. |
| Authors |
Scheffer IE. |
| Reference |
Brain 126(Pt 3): 513-514, 2003
(PubMed ID: 12566273 )
|
|
About phenotypes | |
| Title |
Generalized epilepsy with febrile seizures plus type 2 mutation W1204R alters voltage-dependent gating of Na(v)1.1 sodium channels. |
| Authors |
Spampanato J, Escayg A, Meisler MH, Goldin AL. |
| Reference |
Neuroscience 116(1): 37-48, 2003
(PubMed ID: 12535936 )
|
|
About function | |
| Title |
Molecular genetics of febrile seizures. |
| Authors |
Iwasaki N, Nakayama J, Hamano K, Matsui A, Arinami T. |
| Reference |
Epilepsia 43 Suppl 9: 32-35, 2002
(PubMed ID: 12383277 )
|
|
About genetics | |
| Title |
Molecular basis of an inherited epilepsy. |
| Authors |
Lossin C, Wang DW, Rhodes TH, Vanoye CG, George AL Jr. |
| Reference |
Neuron 34(6): 877-884, 2002
(PubMed ID: 12086636 )
|
|
Variations Table
|
Variations Details
|
| Title |
Significant correlation of the SCN1A mutations and severe myoclonic epilepsy in infancy. |
| Authors |
Ohmori I, Ouchida M, Ohtsuka Y, Oka E, Shimizu K |
| Reference |
Biochemical and Biophysical Research Communications 295(1): 17-23, 2002
(PubMed ID: 12083760 )
|
|
Variations Table
|
Variations Details
|
| Title |
Lack of SCN1A mutations in familial febrile seizures. |
| Authors |
Malacarne M, Madia F, Gennaro E, Vacca D, Güney AI, Buono S, Bernardina BD, Gaggero R, Gobbi G, Lispi ML, Malamaci D, Melideo G, Roccella M, Sferro C, Tiberti A, Vanadia F, Vigevano F, Viri F, Vitali MR, Bricarelli FD, Bianchi A, Zara F. |
| Reference |
Epilepsia 43(5): 559-562, 2002
(PubMed ID: 12027919 )
|
|
Variations Table
|
Variations Details
|
| Title |
Topiramate as add-on drug in severe myoclonic epilepsy in infancy: an Italian multicenter open trial. |
| Authors |
Coppola G, Capovilla G, Montagnini A, Romeo A, Spanò M, Tortorella G, Veggiotti P, Viri M, Pascotto A. |
| Reference |
Epilepsy Res 49(1): 45-48, 2002
(PubMed ID: 11948006 )
|
|
About treatment | |
| Title |
Frequent mutations of SCN1A in severe myoclonic epilepsy in infancy. |
| Authors |
Sugawara T, Mazaki-Miyazaki E, Fukushima K, Shimomura J, Fujiwara T, Hamano S, Inoue Y, Yamakawa K |
| Reference |
Neurology 58(7): 1122-1124, 2002
(PubMed ID: 11940708 )
|
|
Variations Table
|
Variations Details
|
| Title |
Autosomal dominant epilepsy with febrile seizures plus with missense mutations of the (Na+)-channel alpha 1 subunit gene, SCN1A. |
| Authors |
Ito M, Nagafuji H, Okazawa H, Yamakawa K, Sugawara T, Mazaki-Miyazaki E, Hirose S, Fukuma G, Mitsudome A, Wada K, Kaneko S. |
| Reference |
Epilepsy Res 48(1-2): 15-23, 2002
(PubMed ID: 11823106 )
|
|
Variations Table
|
Variations Details
|
| Title |
Partial and generalized epilepsy with febrile seizures plus and a novel SCN1A mutation. |
| Authors |
Abou-Khalil B, Ge Q, Desai R, Ryther R, Bazyk A, Bailey R, Haines JL, Sutcliffe JS, George AL Jr |
| Reference |
Neurology 57(12): 2265-2272, 2001
(PubMed ID: 11756608 )
|
|
Variations Table
|
Variations Details
|
| Title |
Refractory grand mal seizures with onset during infancy including severe myoclonic epilepsy in infancy. |
| Authors |
Kanazawa O. |
| Reference |
Brain Dev 23(7): 49-56, 2001
(PubMed ID: 11701289 )
|
|
About phenotypes | |
| Title |
Severe myoclonic epilepsy in infants--a review based on the Tokyo Women's Medical University series of 84 cases. |
| Authors |
Oguni H, Hayashi K, Awaya Y, Fukuyama Y, Osawa M. |
| Reference |
Brain Dev 23(7): 736-748, 2001
(PubMed ID: 11701288 )
|
|
About phenotypes | |
| Title |
Clinical and molecular genetics of myoclonic-astatic epilepsy and severe myoclonic epilepsy in infancy (Dravet syndrome). |
| Authors |
Scheffer IE, Wallace R, Mulley JC, Berkovic SF. |
| Reference |
Brain Dev 23(7): 732-735, 2001
(PubMed ID: 11701287 )
|
|
About phenotypes | |
| Title |
Functional effects of two voltage-gated sodium channel mutations that cause generalized epilepsy with febrile seizures plus type 2. |
| Authors |
Spampanato J, Escayg A, Meisler MH, Goldin AL. |
| Reference |
J Neurosci 21(19): 7481-7490, 2001
(PubMed ID: 11567038 )
|
|
Variations Table
|
Variations Details
|
| Title |
Nav1.1 mutations cause febrile seizures associated with afebrile partial seizures. |
| Authors |
Sugawara T, Mazaki-Miyazaki E, Ito M, Nagafuji H, Fukuma G, Mitsudome A, Wada K, Kaneko S, Hirose S, Yamakawa K |
| Reference |
Neurology 57(4): 703-705, 2001
(PubMed ID: 11524484 )
|
|
Variations Table
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Variations Details
|
| Title |
Epileptic encephalopathy. |
| Authors |
Dulac O. |
| Reference |
Epilepsia 42 Suppl 3: 23-26, 2001
(PubMed ID: 11520318 )
|
|
About phenotypes | |
| Title |
Severe myoclonic epilepsy of infancy: extended spectrum of GEFS+? |
| Authors |
Singh R, Andermann E, Whitehouse WP, Harvey AS, Keene DL, Seni MH, Crossland KM, Andermann F, Berkovic SF, Scheffer IE. |
| Reference |
Epilepsia 42(7): 837-844, 2001
(PubMed ID: 11488881 )
|
|
About phenotypes | |
| Title |
Regulation of Na+ channel distribution in the nervous system. |
| Authors |
Novakovic SD, Eglen RM, Hunter JC. |
| Reference |
Trends Neurosci 24(8): 473-478, 2001
(PubMed ID: 11476887 )
|
|
About sodium channels | |
| Title |
Enhanced inactivation and acceleration of activation of the sodium channel associated with epilepsy in man. |
| Authors |
Alekov AK, Rahman MM, Mitrovic N, Lehmann-Horn F, Lerche H. |
| Reference |
Eur J Neurosci 13(11): 2171-2176, 2001
(PubMed ID: 11422459 )
|
|
About function | |
| Title |
De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy. |
| Authors |
Claes L, Del-Favero J, Ceulemans B, Lagae L, Van Broeckhoven C, De Jonghe P |
| Reference |
The American Journal of Human Genetics 68(6): 1327-1332, 2001
(PubMed ID: 11359211 )
|
|
Variations Table
|
Variations Details
|
| Title |
Generalized epilepsy with febrile seizures plus and severe myoclonic epilepsy in infancy: a case report of two Italian families. |
| Authors |
Veggiotti P, Cardinali S, Montalenti E, Gatti A, Lanzi G. |
| Reference |
Epileptic Disord 3(1): 29-32, 2001
(PubMed ID: 11313220 )
|
|
About phenotypes | |
| Title |
A novel SCN1A mutation associated with generalized epilepsy with febrile seizures plus--and prevalence of variants in patients with epilepsy. |
| Authors |
Escayg A, Heils A, MacDonald BT, Haug K, Sander T, Meisler MH |
| Reference |
Am J Hum Genet 68(4): 866-873, 2001
(PubMed ID: 11254445 )
|
|
Variations Table
|
Variations Details
|
| Title |
Neuronal sodium-channel alpha1-subunit mutations in generalized epilepsy with febrile seizures plus. |
| Authors |
Wallace RH, Scheffer IE, Barnett S, Richards M, Dibbens L, Desai RR, Lerman-Sagie T, Lev D, Mazarib A, Brand N, Ben-Zeev B, Goikhman I, Singh R, Kremmidiotis G, Gardner A, Sutherland GR, George AL Jr, Mulley JC, Berkovic SF |
| Reference |
Am J Hum Genet 68(4): 859-865, 2001
(PubMed ID: 11254444 )
|
|
Variations Table
|
Variations Details
|
| Title |
Genetic predisposition to severe myoclonic epilepsy in infancy. |
| Authors |
Benlounis A, Nabbout R, Feingold J, Parmeggiani A, Guerrini R, Kaminska A, Dulac O. |
| Reference |
Epilepsia 42(2): 204-209, 2001
(PubMed ID: 11240590 )
|
|
About phenotypes | |
| Title |
Resurgence of sodium channel research. |
| Authors |
Goldin AL. |
| Reference |
Annu Rev Physiol 63: 871-894, 2001
(PubMed ID: 11181979 )
|
|
About sodium channels | |
| Title |
Topiramate in the treatment of severe myoclonic epilepsy in infancy. |
| Authors |
Nieto-Barrera M, Candau R, Nieto-Jimenez M, Correa A, del Portal LR. |
| Reference |
Seizure 9(8): 590-594, 2000
(PubMed ID: 11162758 )
|
|
About treatment | |
| Title |
Severe myoclonic epilepsy in infants and its related syndromes. |
| Authors |
Dravet C. |
| Reference |
Epilepsia 41 Suppl 9: 7, 2000
(PubMed ID: 11156512 )
|
|
About phenotypes | |
| Title |
Nomenclature of voltage-gated sodium channels. |
| Authors |
Goldin AL, Barchi RL, Caldwell JH, Hofmann F, Howe JR, Hunter JC, Kallen RG, Mandel G, Meisler MH, Netter YB, Noda M, Tamkun MM, Waxman SG, Wood JN, Catterall WA. |
| Reference |
Neuron 28(2): 365-368, 2000
(PubMed ID: 11144347 )
|
|
About sodium channels | |
| Title |
A sodium channel mutation causing epilepsy in man exhibits subtle defects in fast inactivation and activation in vitro. |
| Authors |
Alekov A, Rahman MM, Mitrovic N, Lehmann-Horn F, Lerche H. |
| Reference |
J Physiol 529 Pt 3: 533-539, 2000
(PubMed ID: 11118488 )
|
|
Variations Table
|
Variations Details
|
| Title |
Stiripentol in severe myoclonic epilepsy in infancy: a randomised placebo-controlled syndrome-dedicated trial. STICLO study group. |
| Authors |
Chiron C, Marchand MC, Tran A, Rey E, d'Athis P, Vincent J, Dulac O, Pons G. |
| Reference |
Lancet 356(9242): 1638-1642, 2000
(PubMed ID: 11089822 )
|
|
About treatment | |
| Title |
From ionic currents to molecular mechanisms: the structure and function of voltage-gated sodium channels. |
| Authors |
Catterall WA. |
| Reference |
Neuron 26(1): 13-25, 2000
(PubMed ID: 10798388 )
|
|
About function | |
| Title |
Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2. |
| Authors |
Escayg A, MacDonald BT, Meisler MH, Baulac S, Huberfeld G, An-Gourfinkel I, Brice A, LeGuern E, Moulard B, Chaigne D, Buresi C, Malafosse A. |
| Reference |
Nat Genet 24(4): 343-345, 2000
(PubMed ID: 10742094 )
|
|
Variations Table
|
Variations Details
|
| Title |
A new locus for generalized epilepsy with febrile seizures plus maps to chromosome 2. |
| Authors |
Lopes-Cendes I, Scheffer IE, Berkovic SF, Rousseau M, Andermann E, Rouleau GA. |
| Reference |
Am J Hum Genet 66(2): 689-701, 2000
(PubMed ID: 10677328 )
|
|
Variations Table
|
Variations Details
|
| Title |
Identification of a new locus for generalized epilepsy with febrile seizures plus (GEFS+) on chromosome 2q24-q33. |
| Authors |
Moulard B, Guipponi M, Chaigne D, Mouthon D, Buresi C, Malafosse A. |
| Reference |
Am J Hum Genet 65(5): 1396-1400, 1999
(PubMed ID: 10521305 )
|
|
About genetics | |
| Title |
Molecular properties of brain sodium channels: an important target for anticonvulsant drugs. |
| Authors |
Catterall WA. |
| Reference |
Adv Neurol 79: 441-456, 1999
(PubMed ID: 10514834 )
|
|
About sodium channels | |
| Title |
A second locus for familial generalized epilepsy with febrile seizures plus maps to chromosome 2q21-q33. |
| Authors |
Baulac S, Gourfinkel-An I, Picard F, Rosenberg-Bourgin M, Prud'homme JF, Baulac M, Brice A, LeGuern E.
Baulac S, Gourfinkel-An I, Picard F, Rosenberg-Bourgin M, Prud'homme JF, Baulac M, Brice A, LeGuern E. |
| Reference |
Am J Hum Genet 65(4): 1078-1085, 1999
(PubMed ID: 10486327 )
|
|
Variations Table
|
Variations Details
|
| Title |
Generalized epilepsy with febrile seizures plus: a common childhood-onset genetic epilepsy syndrome. |
| Authors |
Singh R, Scheffer IE, Crossland K, Berkovic SF |
| Reference |
Ann Neurol 45(1): 75-81, 1999
(PubMed ID: 9894880 )
|
|
About phenotypes | |
| Title |
Severe idiopathic generalized epilepsy of infancy with generalized tonic-clonic seizures. |
| Authors |
Doose H, Lunau H, Castiglione E, Waltz S. |
| Reference |
Neuropediatrics 29(5): 229-238, 1998
(PubMed ID: 9810557 )
|
|
About phenotypes | |
| Title |
A proposed diagnostic scheme for people with epileptic seizures and with epilepsy: report of the ILAE Task Force on Classification and Terminology. |
| Authors |
Engel J Jr; International League Against Epilepsy (ILAE). |
| Reference |
Epilepsia 42(6): 796-803, 2001
(PubMed ID: 9738683 )
|
|
About phenotypes | |
| Title |
Lamotrigine and seizure aggravation in severe myoclonic epilepsy. |
| Authors |
Guerrini R, Dravet C, Genton P, Belmonte A, Kaminska A, Dulac O. |
| Reference |
Epilepsia 39(5): 508-512, 1998
(PubMed ID: 9596203 )
|
|
About treatment | |
| Title |
Febrile seizures: genetics and relationship to other epilepsy syndromes. |
| Authors |
Berkovic SF, Scheffer IE. |
| Reference |
Curr Opin Neurol 11(2): 129-134, 1998
(PubMed ID: 9551293 )
|
|
About phenotypes | |
| Title |
Severe myoclonic epilepsy in infancy: evolution of seizures. |
| Authors |
Ohki T, Watanabe K, Negoro T, Aso K, Haga Y, Kasai K, Kito M, Maeda N. |
| Reference |
Seizure 6(3): 219-224, 1997
(PubMed ID: 9203251 )
|
|
About phenotypes | |
| Title |
Generalized epilepsy with febrile seizures plus. A genetic disorder with heterogeneous clinical phenotypes. |
| Authors |
Scheffer IE, Berkovic SF. |
| Reference |
Brain 120 (Pt 3): 479-490, 1997
(PubMed ID: 9126059 )
|
|
About phenotypes | |
| Title |
Localization of a putative human brain sodium channel gene (SCN1A) to chromosome band 2q24. |
| Authors |
Malo MS, Blanchard BJ, Andresen JM, Srivastava K, Chen XN, Li X, Jabs EW, Korenberg JR, Ingram VM. |
| Reference |
Cytogenet Cell Genet 67(3): 178-186, 1994
(PubMed ID: 8062593 )
|
|
About genetics | |
| Title |
Severe myoclonic epilepsy of infancy. |
| Authors |
Hurst DL. |
| Reference |
Pediatr Neurol 3(5): 269-272, 1987
(PubMed ID: 3149471 )
|
|
About treatment | |
| Title |
Proposal for revised classification of epilepsies and epileptic syndromes. Commission on Classification and Terminology of the International League Against Epilepsy. |
| Authors |
Commission of Classification and Terminology of the International League Against Epilepsy |
| Reference |
Epilepsia 30(4): 389-399, 1989
(PubMed ID: 2502382 )
|
|
About phenotypes | |
| Title |
Clinical and neuropathologic findings in a case of severe myoclonic epilepsy of infancy. |
| Authors |
Renier WO, Renkawek K. |
| Reference |
Epilepsia 31(3): 287-291, 1990
(PubMed ID: 2111767 )
|
|
About phenotypes | |
| Title |
Clinicoelectrographic concordance between monozygotic twins with severe myoclonic epilepsy in infancy. |
| Authors |
Fujiwara T, Nakamura H, Watanabe M, Yagi K, Seino M, Nakamura H. |
| Reference |
Epilepsia 31(3): 281-286, 1990
(PubMed ID: 2111766 )
|
|
About phenotypes | |
| Title |
Epidemiology of severe myoclonic epilepsy of infancy. |
| Authors |
Hurst DL. |
| Reference |
Epilepsia 31(4): 397-400, 1990
(PubMed ID: 1695145 )
|
|
About phenotypes | |
| Title |
Early diagnosis of severe myoclonic epilepsy in infancy. |
| Authors |
Yakoub M, Dulac O, Jambaqué I, Chiron C, Plouin P. |
| Reference |
Brain Dev 14(5): 299-303, 1992
(PubMed ID: 1456383 )
|
|
About phenotypes | |
| Title |
Long-term course of childhood epilepsy with intractable grand mal seizures. |
| Authors |
Fujiwara T, Watanabe M, Takahashi Y, Higashi T, Yagi K, Seino M. |
| Reference |
Jpn J Psychiatry Neurol 46(2): 297-302, 1992
(PubMed ID: 1434151 )
|
|
About phenotypes | |
| Title |
Alternatively spliced sodium channel transcripts in brain and muscle. |
| Authors |
Schaller KL, Krzemien DM, McKenna NM, Caldwell JH. |
| Reference |
J Neurosci 12(4): 1370-1381, 1992
(PubMed ID: 1313493 )
|
|
About sodium channels | |
| Title |
Personal Communication |
| Authors |
Löfgren A, De Jonghe P |
| Reference |
: , 2010
(PubMed ID: 0 )
|
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Variations Table
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Variations Details
|
