Mutation information:
NumberExon/IntronNucleotide change Protein changeLocation Mutation typeConsequencesPhenotype InheritanceReference
43614c.2575C>Tp.Arg859CysDIIS4 MissenseP/﹢→N (180); DEGEFS+Familial(Paternal,FS),p=7/7Barela AJ.2006
SMEIDe novoDepienne C.2009
SMEINAZuberi SM.2011

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Functional information:
NumberNucleotide changeProtein changeLocationPhenotypeFunctional defect type Details of the major biophysical abnormalities.Reference
12c.2575C>Tp.Arg859Cys(R859C)DIIS4(V-sensor)GEFS+ fDE Hypoexcitable (positive) shift of activation, slower recovery from slow inactivation, lower levels of current.Barela AJ.2006

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Inheritance information:
NumberNucleotide changeProtein changeMutation type Proband's phenotype1st transmitter's phenotype Mosaic Affected generationsPenetranceReference
47c.2575C>Tp.Arg859Cys(DIIS4)MissenseGEFS+FS(Paternal) ≥37/7Barela AJ.2006

[c.2575C>T] Clinical description

The five-generation pedigree come from Caucasian family, and contained 27 individuals, ten of them affected. Four affected individuals had presented with GEFS+, two affected individuls with GTCS without FS, while other four subjects had only simple FS. The proband (V-1) had only presented with generalized tonic clonic seizures with fever or without fever, and referred for evaluation for intractable epilepsy. The electroencephalogram analysis showed generalized intermittent polymorphic delta slowing, and the MRI showed no structural abnormality after anterior 2/3 callosotomy(Barela AJ,et al. J Neurosci. 2006 Mar 8;26(10): 2714-23. [16525050]).