Mutation information:
NumberExon/IntronNucleotide change Protein changeLocation Mutation typeConsequencesPhenotype InheritanceReference
2756c.865G>Tp.Glu289XDIS5-S6NonsenseHaploinsufficiencySMEIFamilial(Maternal,PE),P=2/2Nabbout R.2003
SMEIDe novoOrrico A.2009


Inheritance information:
NumberNucleotide changeProtein changeMutation type Proband's phenotype1st transmitter's phenotype Mosaic Affected generationsPenetranceReference
23c.865G>Tp.Glu289X(DIS5-S6)NonsenseSMEIPartial epilepsy(Maternal) 22/2Nabbout R.2003