Mutation information:
NumberExon/IntronNucleotide change Protein changeLocation Mutation typeConsequencesPhenotype InheritanceReference
77015c.2875T>Cp.Cys959ArgDIIS5-S6MissenseN→P/﹢(180); LOF SMEIDe novoClaes L.2003

Functional information:
NumberNucleotide changeProtein changeLocationPhenotypeFunctional defect type Details of the major biophysical abnormalities.Reference
21c.2875T>Cp.Cys959Arg(C959R)DIIS5-S6SMEI LOF No measurable sodium current.Ohmori I.2006

[c.2875T>C] Clinical description

The first seizure of the patient was presented with lateralized tonic-clonic seizures with fever at the age of three months. Thereafter the patient occurred other seizures including secondary generalized tonic clonic seizures, absence seizures, status epilepticus, and myoclonic seizures with weekly after the age of 10 months. The patient had severe retardation, ataxia and therapy resistant during following up for 16 years(Claes L,et al. Hum Mutat. 2003 Jun;21(6): 615-21. [12754708]).