Mutation information:
NumberExon/IntronNucleotide change Protein changeLocation Mutation typeConsequencesPhenotype InheritanceReference
158726c.5246G>Ap.Gly1749GluDIVS5-S6MissenseN→P/﹣(98); pLOF SMEIDe novoClaes L.2003

Functional information:
NumberNucleotide changeProtein changeLocationPhenotypeFunctional defect type Details of the major biophysical abnormalities.Reference
47c.5246G>Ap.Gly1749Glu(G1749E)DIVS5-S6SMEI pLOF Reduced current density, faster onset of slow inactivation.Rhodes TH.2004

[c.5246G>A] Clinical description

The first seizure of patient was presented with  generalized tonic-clonic seizures (GTCS) with fever at the age of eight months. Thereafter the patient occurred other seizures including secondary GTCS, absence seizures, complex partial seizures, and myoclonic seizures with weekly after two years old. The patient had  moderate retardation, ataxia and therapy resistant during following up for 12.5 years(Claes L,et al. Hum Mutat. 2003 Jun;21(6): 615-21. [12754708]).