Mutation information:
NumberExon/IntronNucleotide change Protein changeLocation Mutation typeConsequencesPhenotype InheritanceReference
50410c.1624C>Tp.Arg542XDI-DIINonsenseHaploinsufficiencySMEIDe novoMancardi MM.2006
SMEIDe novoDepienne C.2009
SMEIDe novoMarini C.2007
SMEIFamilial(Maternal,mosaic,asympt),P=2/2 Depienne C.2006
SMEDe novoSun H.2010
SMEINAZuberi SM.2011
Epilepsy and/or NDDNALindy AS.2018


Inheritance information:
NumberNucleotide changeProtein changeMutation type Proband's phenotype1st transmitter's phenotype Mosaic Affected generationsPenetranceReference
56c.1624C>Tp.Arg542X(DI-DII)NonsenseSMEINo symptom(Maternal)Mosaic(~25%)22/2Depienne C.2006