SCN1A Variant Database

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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 )
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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 )
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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 )
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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 phenotypes
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 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 genetics
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 function
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 phenotypes
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 genetics
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 genetics
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 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 sodium channels
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 phenotypes
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 genetics
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 )
Variations Table Variations Details

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