Mutation information:
NumberExon/IntronNucleotide change Protein changeLocation Mutation typeConsequencesPhenotype InheritanceReference
146126c.4942C>Tp.Arg1648CysDIVS4MissenseP/﹢→N (180); G-LOFSMEINAOhmori I.2002
SMEINAOrrico A.2009
SMEI2NAZuberi SM.2011

Functional information:
NumberNucleotide changeProtein changeLocationPhenotypeFunctional defect type Details of the major biophysical abnormalities.Reference
37c.4942C>Tp.Arg1648Cys(R1648C)DIVS4SMEI G-LOF Bigger persistent current comparing with R1648H. Hypoexcitable (positive) shift of activation, reduced channel availability by negative shift of inactivation and positive shift of activation.Rhodes TH.2005

[c.4942C>T] Clinical description

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