Mutation information:
NumberExon/IntronNucleotide change Protein changeLocation Mutation typeConsequencesPhenotype InheritanceReference
152026c.5054C>Tp.Ala1685ValDIVS5MissenseN→N (64); pLOF PEFS+Familial(Paternal,PEFS+),P=5/5Sugawara T.2001
FSNAIto M.2002

Functional information:
NumberNucleotide changeProtein changeLocationPhenotypeFunctional defect type Details of the major biophysical abnormalities.Reference
44c.5054C>Tp.Ala1685Val(A1685V)DIVS5PEFS+ fLOF No measurable sodium current.Sugiura Y.2012

Inheritance information:
NumberNucleotide changeProtein changeMutation type Proband's phenotype1st transmitter's phenotype Mosaic Affected generationsPenetranceReference
152c.5054C>Tp.Ala1685Val(DIVS5)MissensePEFS+PEFS+(Paternal) 5/5Sugawara T.2001

[c.5054C>T] Clinical description

In this family, the affected members reportedly had frequent seizures, both febrile and afebrile, during infancy and subsequently developed epilepsies. An autosomal dominant inheritance for the epilepsy phenotype was suggested. The seizure phenotypes observed in the affected family members seemed compatible with partial epilepsies, except for the proband’s one-year-old sister (III-2), who had only FS at the time of the study. Partial epilepsy of the proband, a 6-year-old girl, was confirmed by EEG and [18F]fluorodeoxyglucose PET, which showed a right frontal focus(Sugawara T, et al. Neurology. 2001 Aug 28;57(4):703-5.[11524484]).