Mutation information:
NumberExon/IntronNucleotide change Protein changeLocation Mutation typeConsequencesPhenotype InheritanceReference
166826c.5492T>Cp.Phe1831SerC-terminalMissenseN→P/O(155); pLOF SMEINAFujiwara T.2003
SMEIDe novoLe Gal F.2014

Functional information:
NumberNucleotide changeProtein changeLocationPhenotypeFunctional defect type Details of the major biophysical abnormalities.Reference
50c.5492T>Cp.Phe1831Ser(F1831S)C-terminalSMEI pLOF Apparent reduction of peak current.Sugawara T. 2003

[c.5492T>C] Clinical description

The first seizure of the female patient, 14-years-old, was presented with generalized tonic-clonic seizures (GTCS) at the age of eight months. Thereafter the patient occurred other seizures including myoclonic from 8months to13years old, absence from 14 months to 13 years old, complex partial seizures from 2 years old, hemiclonic, and  GTCS with weekly after the age of eight months.The patient had severe mental decline and ataxia. There had no familial history of FS or epilepsies. The CT was slight atrophy,and the electroencephalogram analysis showed spike-slow complex, poly spike-slow complex, and photosensitivity(Fujiwara T,et al. Brain. 2003 Mar;126(Pt 3):531-46. [12566275]).