Mutation information:
NumberExon/IntronNucleotide change Protein changeLocation Mutation typeConsequencesPhenotype InheritanceReference
151926c.5054C>Ap.Ala1685AspDIVS5MissenseN→P/﹣(126); LOF SMEIDe novoFujiwara T.2003

Functional information:
NumberNucleotide changeProtein changeLocationPhenotypeFunctional defect type Details of the major biophysical abnormalities.Reference
45c.5054C>Ap.Ala1685Asp(A1685D)DIVS5SMEILOF The mutant channel with and without b1 subunit did not conduct any sodium currents.Sugiura Y.2012

[c.5054C>A] Clinical description

The first seizure of the male patient, 19-years-old, was presented with generalized tonic-clonic seizures (GTCS) at the age of six months. Thereafter the patient occurred other seizures including myoclonic seizures from two to four years old, and  GTCS with weekly after the age of  six months. The patient had severe mental decline and ataxia. The patient maternal uncle had febrile convulsion. The CT was normal, and the electroencephalogram analysis showed poly spike-wave complexs and rare spike in frontal region(Fujiwara T,et al. Brain. 2003 Mar;126(Pt 3):531-46. [12566275]).