Mutation information:
NumberExon/IntronNucleotide change Protein changeLocation Mutation typeConsequencesPhenotype InheritanceReference
147726c.4982T>Cp.Phe1661SerDIVS4-S5MissenseN→P/O(155); G-LOF SMEIDe novoClaes L.2003

Functional information:
NumberNucleotide changeProtein changeLocationPhenotypeFunctional defect type Details of the major biophysical abnormalities.Reference
42c.4982T>Cp.Phe1661Ser(F1661S)DIVS4-S5(V-sensor)SMEI G-LOF Big persistent current. Reduced current density, impaired recovery from slow inactivation.Rhodes TH.2004

[c.4982T>C] Clinical description

The first seizure of patient was presented with  status epilepticus with fever at the age of  nine months. Thereafter the patent occurred other seizures including secondary generalized tonic clonic seizures,  lateralized tonic-clonic seizures, and myoclonic seizures with daily after the age of 15 months. The patient had  severe retardation and therapy resistant during following up for 6.5 years(Claes L,et al. Hum Mutat. 2003 Jun;21(6): 615-21. [12754708]).