Mutation information:
NumberExon/IntronNucleotide change Protein changeLocation Mutation typeConsequencesPhenotype InheritanceReference
79515c.2935G>Ap.Gly979ArgDIIS6MissenseN→P/﹢(125); LOF ICEGTCNAFujiwara T.2003

Functional information:
NumberNucleotide changeProtein changeLocationPhenotypeFunctional defect type Details of the major biophysical abnormalities.Reference
22c.2935G>Ap.Gly979Arg(G979R)DIIS6ICEGTC LOF No measurable sodium current.Rhodes TH.2005; Sugawara T.2003

[c.2935G>A] Clinical description

The first seizure of the male patient, 19-years-old, was presented with hemiclonic seizures at the age of four months. Thereafter the patient occurred other seizures including complex partial seizures from seven to seventeen years, and  GTCS with monthly after the age of seven months. The patient had severe mental decline. His sister had Down's syndrome, and his maternal cousin had epilepsy. The CT scan was normal and the electroencephalogram analysis showed  bilateral frontal sharp wave and spike-wave complex(Fujiwara T,et al. Brain. 2003 Mar;126(Pt 3):531-46. [12566275]).