Mutation information:
NumberExon/IntronNucleotide change Protein changeLocation Mutation typeConsequencesPhenotype InheritanceReference
1995c.652T>Cp.Phe218LeuDIS4MissenseN→N (22)PEFS+Familial(Paternal,asympt),P=5/5Livingston JH.2009
GEFS+Familial(Maternal, GEFS+)Catarino CB.2011


Inheritance information:
NumberNucleotide changeProtein changeMutation type Proband's phenotype1st transmitter's phenotype Mosaic Affected generationsPenetranceReference
19c.652T>Cp.Phe218Leu(DIS4)MissensePEFS+GEFS+(Paternal&Maternal) 25/5Livingston JH.2009
GEFS+GEFS+(Maternal) Catarino CB.2011