SCN1A Articles & Research

Did you know

242 out of 333 (73%) patients with Dravet Syndrome where found to have SCN1A mutations or deletions, 228 patients were found to have point deletions and of those 161 had mutations that where not previously reported. (26 September 2008) fact from

So to clarify - Not all Dravet Syndrome patients will have a SCN1A mutation

SCN1A mutations can also be found in conditions other then Dravet Syndrome (I.e. GEFS+)

Read more Dravet's statistics here.....

SCN1A Articles & Research Links

* * *SCN1A Infobase * * * Site dedicated to this gene and it's variants. Offering mutation data, SCN1A information and statistics. Highly Recommended Viewing!!

PubMed Central Effect of Localization of Missense Mutations in SCN1A on Epilepsy Phenotype Severity (Research Article)

Journal of Medical Genetics Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients (Research Article)

Wiley InterScience A Screening test for the prediction of Dravet syndrome before one year of age (Research Article - Full Text)