PubMed 18804930

Title: A catalog of SCN1A variants.

Authors: Christoph Lossin

Journal, date & volume: Brain Dev., 2009 Feb , 31, 114-30

PubMed link:

Over the past 10 years mutations in voltage-gated sodium channels (Na(v)s) have become closely associated with inheritable forms of epilepsy. One isoform in particular, Na(v)1.1 (gene symbol SCN1A), appears to be a superculprit, registering with more than 330 mutations to date. The associated phenotypes range from benign febrile seizures to extremely serious conditions, such as Dravet's syndrome (SMEI). Despite the wealth of information, mutational analyses are cumbersome, owing to inconsistencies among the Na(v)1.1 sequences to which different research groups refer. Splicing variability is the core problem: Na(v)1.1 co-exists in three isoforms, two of them lack 11 or 28 amino acids compared to full-length Na(v).1.1. This review establishes a standardized nomenclature for Na(v)1.1 variants so as to provide a platform from which future mutation analyses can be started without need for up-front data normalization. An online resource--SCN1A infobase--is introduced.