Mutation information:
NumberExon/IntronNucleotide change Protein changeLocation Mutation typeConsequencesPhenotype InheritanceReference
73815c.2817C>Gp.His939GlnDIIS5-S6MissenseP/﹢→P/O(24); LOF SMEIDe novoClaes L.2003

Functional information:
NumberNucleotide changeProtein changeLocationPhenotypeFunctional defect type Details of the major biophysical abnormalities.Reference
18c.2817C>Gp.His939Gln(H939Q)DIIS5-S6SMEI LOF No measurable sodium current.Ohmori I.2006

[c.2817C>G] Clinical description

The first seizure of the patient was presented with  lateralized tonic-clonic seizure at the age of 4.5 months after 1st vaccination. Thereafter the patent occurred other seizures including secondary generalized tonic clonic seizures, generalized tonic seizures, complex partial seizures and status epilepticus. The patient had  moderate mental retardation, ataxia and therapy resistant during following up for 1.9 years(Claes L,et al. Hum Mutat. 2003 Jun;21(6):615-21.[12754708]).