Mutation information:
NumberExon/IntronNucleotide change Protein changeLocation Mutation typeConsequencesPhenotype InheritanceReference
165026c.5422T>Cp.Phe1808LeuC-terminalMissenseN→N (22); G-LOF ICEGTCNAFujiwara T.2003
SMEINAEpi4K consortium..2017

Functional information:
NumberNucleotide changeProtein changeLocationPhenotypeFunctional defect type Details of the major biophysical abnormalities.Reference
49c.5422T>Cp.Phe1808Leu(F1808L)C-terminalICEGTC G-LOF Big persistent current. Reduced current density, reduced window current (channel availability) by greater negative shift of inactivation than the negative shift of activation.Rhodes TH.2005

[c.5422T>C] Clinical description

The first seizure of the female patient, 25-years-old, was presented with generalized tonic-clonic seizures (GTCS) at the age of 11 months. Thereafter the patent have only GTCS with yearly. The patient had  moderate mental decline, ataxia and left hemiparesis . There had no familial history of FS or epilepsies. The CT was normal, and the electroencephalogram analysis showed spikes in left frontal-temporal region and spike-wave complex(Fujiwara T,et al. Brain. 2003 Mar;126(Pt 3):531-46. [12566275]).