Mutation information:
NumberExon/IntronNucleotide change Protein changeLocation Mutation typeConsequencesPhenotype InheritanceReference
81616c.2956C>Tp.Leu986PheDIIS6MissenseN→N (22); LOF SMEIDe novoClaes L.2001

Functional information:
NumberNucleotide changeProtein changeLocationPhenotypeFunctional defect type Details of the major biophysical abnormalities.Reference
25c.2956C>Tp.Leu986Phe(L986F)DIIS6SMEI LOF No measurable sodium current.Lossin C.2003

[c.2956C>T] Clinical description

The first seizure of the female patient, three-years-old, was presented with generalized tonic-clonic seizures with fever at the age of four months. Thereafter the patent occurred other seizures including myoclonic seizures, secondary generalized tonic clonic seizures, absence seizure, and simple partial seizures with rarely from 12 months of age. The patient had  moderate mental retardation and ataxia. The drug-therapy was resistant(Claes L, et al. Am. J. Hum. Genet. 68:1327–1332, 2001 [11359211]).