Mutation information:
NumberExon/IntronNucleotide change Protein changeLocation Mutation typeConsequencesPhenotype InheritanceReference
143826c.4894C>Tp.Pro1632SerDIVS3-S4MissenseN→P/O (74); G-LOF ICEGTCNAFujiwara T.2003

Functional information:
NumberNucleotide changeProtein changeLocationPhenotypeFunctional defect type Details of the major biophysical abnormalities.Reference
36c.4894C>Tp.Pro1632Ser(P1632S)DIVS3-S4ICEGTC G-LOF Moderate persistent current. Reduced window current (channel availability) by greater negative shift of inactivation than the negative shift of activation, reduced channel availability by greater delaying in recovery than in onset of slow inactivation.Rhodes TH.2005

[c.4894C>T] Clinical description

The first seizure of the male patient, 18-years-old, was presented with hemiclonic seizures at the age of three months. Thereafter the patent occurred other seizures including complex partial seizures from one to 17 years old, and  GTCS with weekly after the age of  three months. The patient had severe mental decline. There had no familial history of FS or epilepsies. The CT wasn't done, and the electroencephalogram analysis showed  no epileptic paroxysms(Fujiwara T,et al. Brain. 2003 Mar;126(Pt 3):531-46. [12566275]).