Mutation information:
NumberExon/IntronNucleotide change Protein changeLocation Mutation typeConsequencesPhenotype InheritanceReference
61213c.2369A>Gp.Tyr790CysDIIS1-S2MissenseP/O→N (194)GEFS+Familial(Paternal,FS),P=3/3Annesi G.2003
PSFamilialOrrico A.2009
GEFS+NABechi G.2015
Panayiotopoulos syndromeNABennett CA.2017


Inheritance information:
NumberNucleotide changeProtein changeMutation type Proband's phenotype1st transmitter's phenotype Mosaic Affected generationsPenetranceReference
67c.2369A>Gp.Tyr790Cys(DIIS1-S2)MissenseGEFS+FS(Paternal) 23/3Annesi G.2003
PSNA Orrico A.2009