Mutation information:
NumberExon/IntronNucleotide change Protein changeLocation Mutation typeConsequencesPhenotype InheritanceReference
70515c.2705T>Gp.Phe902CysDIIS5MissenseN→N (205); LOF SMEINAOhmori I.2002

Functional information:
NumberNucleotide changeProtein changeLocationPhenotypeFunctional defect type Details of the major biophysical abnormalities.Reference
17c.2705T>Gp.Phe902Cys(F902C)DIIS5SMEILOF No measurable sodium current.Rhodes TH.2004

[c.2705T>G] Clinical description

There was no detail description in artcle but the male patient had presented with the first seizure at the age of  5 months, and the patient's brother had febrile convulsions(Ohmori I,et al. Biochem Biophys Res Commun. 2002 Jul 5;295(1):17-23.[12083760]).