SCN1A Variant Database
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Nomenclature and numbering of exons, introns and protein domains are according to Escayg et al. (2000).
Name of variation, as described in 'Mutation nomenclature extensions and suggestions to describe complex mutations: A discussion.' (den Dunnen JT & Antonarakis SE, Human Mutation 15: 7-12, 2000).
See also: http://www.hgvs.org/mutnomen/
Since several splice variants were used to describe variations in SCN1A in the literature, all variations were renumbered with respect to the longest cDNA transcript (accession number AB093548) when necessary.
Change of the mutated sequence From ... To ... . Exonic sequences are in uppercase, intronic sequences in lowercase. A dot separates between codons.
mutation: pathogenic sequence alteration
variation: pathogenic effect of sequence alteration is uncertain
polymorphism: non-pathogenic sequence alteration
| CFE | Cryptogenic focal epilepsy |
| CGE | Cryptogenic generalized epilepsy |
| Dravet Sydrome | Includes SMEI and SMEB |
| EPI | Epilepsy |
| FHM | Familial hemiplegic migraine |
| FHM + ERDB | Familial hemiplegic migraine + elicited repetitive daily blindness |
| FS | Febrile seizures |
| FS + MS | Febrile seizures and myoclonic seizures |
| FS + TLE | Febrile seizures and temporal lobe epilepsy |
| FS+ | Febrile seizures plus |
| GEFS+ | Generalized epilepsy with febrile seizures plus |
| ICEGTC | Intractable childhood epilepsy with generalized tonic-clonic seizures |
| IS | Infantile spasms |
| JAE | Juvenile absence epilepsy |
| JME | Juvenile myoclonic epilepsy |
| LGS | Lennox-Gastaut syndrome |
| MAE | Myoclonic astatic epilepsy |
| PE | Partial epilepsy |
| PS | Panayiotopoulos syndrome |
| RE | Rasmussen Encephalitis |
| SGE | Symptomatic generalized epilepsy |
| SIGEI | Severe idiopathic generalized epilepsy of infancy |
| SIMFE | Severe infantile multifocal epilepsy |
| SMEB | SMEI borderline |
| SMEI | Severe myoclonic epilepsy of infancy |
For criteria used to describe the phenotype, please refer to the listed references.
| De novo | Mutation was not observed in parents of the proband |
| Familial | The mutation was observed in additional family members of the proband |
| Mosaic | This mutation was observed in only part of cells of one of the parents |
| Not available | Family members of the proband could not be analyzed |
| Unknown | The authors do not specify if family members of the proband were analyzed |
Link to the literature citations of the variation.
Genomic, cDNA, or protein alterations associated with the variation that are experimentally observed.
Genomic, cDNA or protein alterations associated with the variation that are not experimentally observed, but rather deduced from observations on another level.
Region in the gene, cDNA or protein that is affected by the variation.
Since several splice variants were used to describe variations in SCN1A in the literature, all variations were renumbered according to the longest cDNA transcript (accession number AB093548) when necessary. For clarity, the description of the variation as reported in the literature is provided and can also be used to search the database.
Date when the variation was added to the database .
Internal database identifier unique to each variation.
