Functional information:
NumberNucleotide changeProtein changeLocationPhenotypeFunctional defect type Details of the major biophysical abnormalities.Reference
11c.2422A>Tp.Thr808Ser(T808S)DIIS2 ICEGTC IE Increased current density, delayed both onset and recovery from slow inactivation.Rhodes TH.2005

[c.2422A>T] Clinical description

The first seizure of the male patient, three-years-old, was presented with hemiclonic seizures at the age of nine months. Thereafter the patient occurred generalized tonic clonic seizures with monthly after the age of one year. The patient had  moderate mental decline and hyperkinetic. There had no familial history of FS or epilepsies. The CT was normal. The electroencephalogram analysis showed  rare sharp waves in left temporal region (Fujiwara T,et al. Brain. 2003 Mar;126(Pt 3):531-46. [12566275]).