Mutation information:
NumberExon/IntronNucleotide change Protein changeLocation Mutation typeConsequencesPhenotype InheritanceReference
81216c.2948T>Cp.Val983AlaDIIS6MissenseN→N (64); pLOF ICEGTCDe novoFujiwara T.2003

Functional information:
NumberNucleotide changeProtein changeLocationPhenotypeFunctional defect type Details of the major biophysical abnormalities.Reference
23c.2948T>Cp.Val983Ala(V983A)DIIS6ICEGTC pLOF Reduced current density, hypoexcitable (positive) shift of activation, reduced channel availability by negative shift of inactivation and positive shift of activation. Possible increased channel availability suggested by delayed onset and faster recovery of slow inactivation (less direct).Rhodes TH.2005

[c.2948T>C] Clinical description

The first seizure of the male patient, 21-years-old, was presented with hemiclonic seizures at the age of three months. Thereafter the patient occurred other seizures including complex partial seizures at the age of 2 years, and  generalized tonic clonic seizures with daily after the age of one year. The patient had severe mental decline, ataxia and pyramidal sign. His maternal cousin had febrile convulsion. The CT scan was normal and the electroencephalogram analysis showed  multifocal spikes(Fujiwara T,et al. Brain. 2003 Mar;126(Pt 3):531-46. [12566275]).