Mutation information:
NumberExon/IntronNucleotide change Protein changeLocation Mutation typeConsequencesPhenotype InheritanceReference
1519exon 1-22del SCN1A exon 1-22del SCN1A Partial gene deletion SMEDe novoMarini C.2009
SMEIFamilial(Maternal,mosaic,asympt)Altarescu G.2012


Inheritance information:
NumberNucleotide changeProtein changeMutation type Proband's phenotype1st transmitter's phenotype Mosaic Affected generationsPenetranceReference
138del SCN1A exon 1-22Del SCN1APartial gene deletion SMEINo symptom(Maternal)Mosaic2 Altarescu G.2012