Mutation information:
NumberExon/IntronNucleotide change Protein changeLocation Mutation typeConsequencesPhenotype InheritanceReference
81416c.2954A>Tp.Asn985IleDIIS6MissenseP/O→N (149); LOF SMEINAFujiwara T.2003

Functional information:
NumberNucleotide changeProtein changeLocationPhenotypeFunctional defect type Details of the major biophysical abnormalities.Reference
24c.2954A>Tp.Asn985Ile(N985I)DIIS6SMEI LOF Extremely small Na+ currents, generate non-functional channel.Sugawara T. 2003

[c.2954A>T] Clinical description

The first seizure of the female patient, 25-years-old, was presented with hemiclonic seizures at the age of four months. Thereafter the patient occurred other seizures including complex partial seizures at the age of three years, myoclonic seizure from the ageof  three to six years, and  generalized tonic clonic seizures with daily after the age of four months. The patient had severe mental decline. There had no familial history of FS or epilepsies. The CT scan was normal and the electroencephalogram analysis showed  spike-wave complex, spikes in bilateral frontal and left frontal region(Fujiwara T,et al. Brain. 2003 Mar;126(Pt 3):531-46. [12566275]).