Mutation information:
NumberExon/IntronNucleotide change Protein changeLocation Mutation typeConsequencesPhenotype InheritanceReference
150326c.5020G>Cp.Gly1674ArgDIVS5MissenseN→P/﹢(125); LOF SMEIDe novoOhmori I.2002

Functional information:
NumberNucleotide changeProtein changeLocationPhenotypeFunctional defect type Details of the major biophysical abnormalities.Reference
43c.5020G>Cp.Gly1674Arg(G1674R)DIVS5SMEI LOF No measurable sodium current.Rhodes TH.2004

[c.5020G>C] Clinical description

There was no detail description in article but the female patient had presented with the first seizure at the age of five months, and the patient's sister had febrile convulsions, while her mother had  family history of epilepsy(Ohmori I,et al. Biochem Biophys Res Commun. 2002 Jul 5;295(1):17-23.[12083760]).