Mutation information:
NumberExon/IntronNucleotide change Protein changeLocation Mutation typeConsequencesPhenotype InheritanceReference
106626c.5126C>Tp.Thr1709IleDIVS5-S6MissenseP/O→N (89); LOF ICEGTCFamilial(Maternal,GEFS+),P=2/2Fujiwara T.2003



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Functional information:
NumberNucleotide changeProtein changeLocationPhenotypeFunctional defect type Details of the major biophysical abnormalities.Reference
46c.5126C>Tp.Thr1709Ile(T1709I)DIVS5-S6(pore region)ICEGTC fLOF No measurable sodium current.Rhodes TH.2005



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Inheritance information:
NumberNucleotide changeProtein changeMutation type Proband's phenotype1st transmitter's phenotype Mosaic Affected generationsPenetranceReference
118c.5126C>Tp.Thr1709Ile(DIVS5-S6)MissenseSMEB GEFS(Maternal) 22/2Fujiwara T.2003


[c.5126C>T] Clinical description

The first seizure of the male patient, 25-years-old, was presented with generalized tonic-clonic seizures at the age of  nine months. Thereafter the patent have only GTCS with monthly. The patient had severe mental decline and ataxia. The patient's mother had epilepsy, and your sister had congenital heart disease. The MRI was normal, and the electroencephalogram analysis showed  right frontal spike-wave complex and multifocal spikes(Fujiwara T,et al. Brain. 2003 Mar;126(Pt 3):531-46. [12566275]).