Mutation information:
NumberExon/IntronNucleotide change Protein changeLocation Mutation typeConsequencesPhenotype InheritanceReference
176326c.5962C>Tp.Arg1988Trp C-terminal Missense P/﹢→N (101)Epilepsy-aphasia with FS+ Familial(Paternal,Epilepsy-aphasia with FS),P=3/3 Carvill GL.2013


Inheritance information:
NumberNucleotide changeProtein changeMutation type Proband's phenotype1st transmitter's phenotype Mosaic Affected generationsPenetranceReference
174c.5962C>Tp.Arg1988Trp(C-terminal)MissenseEA with FS+EA with FS(Paternal) 33/3Carvill GL.2013