Mutation information:
NumberExon/IntronNucleotide change Protein changeLocation Mutation typeConsequencesPhenotype InheritanceReference
1224exon 2-4del SCN1A exon 2-4del SCN1A Partial gene deletion SMEIFamilial(Maternal,asympt), p=5/5Guerrini R.2010



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Inheritance information:
NumberNucleotide changeProtein changeMutation type Proband's phenotype1st transmitter's phenotype Mosaic Affected generationsPenetranceReference
139del SCN1A exon 2-4Del SCN1APartial gene deletion SMEIFS+(Maternal) 35/5Guerrini R.2010



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