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scn1a

Locus-specific database listing variants of the SCN1A gene. To provide a continued platform that is in keeping with the latest data, this web site has been set up where all information can be accessed and downloaded. A Mutation submission form encourages data submissions. Over the past ten years, mutations in voltage-gated sodium channels (Navs) have become closely associated with inheritable forms of epilepsy. One isoform in particular, Nav1.1 (gene symbol SCN1A), appears to be a superculprit, with virtually hundreds of mutations. The associated phenotypes range from benign febrile seizures to extremely serious conditions like Dravet syndrome (a.k.a. severe myoclonic epilepsy in infancy or SMEI). Despite the wealth of information, mutational analyses are cumbersome, owing to inconsistencies among the Nav1.1 sequences to which different research groups refer. Splicing variability is the core problem: Nav1.1 exists in the brain in 3 different isoforms: full-length (2009 AA) as well as two shorter versions that lack 11 or 28 amino acids compared to the former. This online database ����?? SCN1A infobase ����?? establishes a standardized nomenclature for Nav1.1 variants so as to provide a platform from which future mutation analyses can be started without up-front data normalization.

URL: http://www.scn1a.info

Resource ID: nlx_143761     Resource Type: Resource     Version: Latest Version

Keywords

scn1a, nav1.1, variation, epilepsy, dravet, smei, gefs, locus-specific, mutation, voltage-gated sodium channel, seizure, sodium channel, scn1a mutation

Additional Resource Types

database, data repository

Supercategory

Resource

Resource Status

Last checked up;

Abbreviation

SCN1A Infobase

Synonyms

The SCN1A Infobase

Parent Organization

Curation Status

curated

Old URLs

http://web.scn1a.info

Resource PubMed IDs

PMID: 22798951

Original Submitter

Anonymous

Version Status

Curated

Submitted On

12:00am November 22, 2011

Originated From

SciCrunch

Changes from Previous Version

First Version

Version 1

Created 3 years ago by Anonymous