Mutation information:
NumberExon/IntronNucleotide change Protein changeLocation Mutation typeConsequencesPhenotype InheritanceReference
70319c.3878delAp.Asp1293ValfsX7DIIIS3FrameshiftHaploinsufficiencySMEIFamilialMarini C.2007
SMEIFamilial(Paternal,mosaic,EP),P=1/1Depienne C.2009,2010



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Inheritance information:
NumberNucleotide changeProtein changeMutation type Proband's phenotype1st transmitter's phenotype Mosaic Affected generationsPenetranceReference
71c.3878delAp.Asp1293ValfsX7(DIIIS3)FrameshiftSMEISingle seizure(Paternal)Mosaic(~32.0%)21/1Depienne C.2010



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