SCN1A Variant Database

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SCN1A variants

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Legend to Variation Tables

Nomenclature and numbering of exons, introns and protein domains are according to Escayg et al. (2000).

Name : SCN1A

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.

Sequence Change

Change of the mutated sequence From ... To ... . Exonic sequences are in uppercase, intronic sequences in lowercase. A dot separates between codons.

Variation type

mutation: pathogenic sequence alteration
variation: pathogenic effect of sequence alteration is uncertain
polymorphism: non-pathogenic sequence alteration

Phenotype

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.

Inheritance

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

References

Link to the literature citations of the variation.

Observed

Genomic, cDNA, or protein alterations associated with the variation that are experimentally observed.

Deduced

Genomic, cDNA or protein alterations associated with the variation that are not experimentally observed, but rather deduced from observations on another level.

Region

Region in the gene, cDNA or protein that is affected by the variation.

Notation in original article: SCN1A

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 Added

Date when the variation was added to the database .

ID

Internal database identifier unique to each variation.

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