Mutation information:
NumberExon/IntronNucleotide change Protein changeLocation Mutation typeConsequencesPhenotype InheritanceReference
102619c.3867_3869delCTTp.Phe1289delDIIIS3In-frame deletionLOFSMEBDe novoOhmori I.2002
SMEIDe novoMancardi MM.2006
De novoDepienne C.2009

Functional information:
NumberNucleotide changeProtein changeLocationPhenotypeFunctional defect type Details of the major biophysical abnormalities.Reference
30c.3867_3869delCTTp.Phe1289del(F1289del)DIIIS3SMEBLOFNo measurable sodium current.Ohmori I.2006

[c.3867_3869delCTT] Clinical description

There was no detail description in article but the male patient had presented with the first seizure at the age of six months, and his father and sister had febrile convulsions(Ohmori I,et al. Biochem Biophys Res Commun. 2002 Jul 5;295(1):17-23.[12083760]).