Mutation information:
NumberExon/IntronNucleotide change Protein changeLocation Mutation typeConsequencesPhenotype InheritanceReference
98819c.3749C>T p.Thr1250Met DIIIS1-S2MissenseP/O→N (81)GEFS+Familial Orrico A.2009
SMENACatarino CB.2011
Rolandic epilepsyFamilial,P=2/2,Affected generations:2Lal D.2016


Inheritance information:
NumberNucleotide changeProtein changeMutation type Proband's phenotype1st transmitter's phenotype Mosaic Affected generationsPenetranceReference
96c.3749C>Tp.Thr1250Met(DIIIS1-S2)MissenseGEFS+NA Orrico A.2009