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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+)
NCBI 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)
Journal of Medical Genetics De novo SCN1A mutations in Dravet syndrome and related epileptic encephalopathies are largely of paternal origin
Journal of Medical Genetics Mechanisms for variable expressivity of inherited SCN1A mutations causing Dravet syndrome
Journal of Medical Genetics Physicochemical property changes of amino acid residues that accompany missense mutations in SCN1A affect epilepsy phenotype severity
Journal of Medical Genetics Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients (26 September 2008)
Recommended Links
SCN1A Infobase Site dedicated to this gene and it's variants. Offering mutation data, SCN1A information and statistics.
