Mutation information:
NumberExon/IntronNucleotide change Protein changeLocation Mutation typeConsequencesPhenotype InheritanceReference
4099c.1178G>Ap.Arg393HisDIS5-S6MissenseP/﹢→P/﹢(29); LOF SMEIDe novoClaes L.2003
SMEIDe novoMarini C.2007
SMEIDe novoSun H.2010
SMEIDe novoZuberi SM.2011
IENAWang JW.2012
SMEBNAWang JW.2012
SMEINALemke JR.2012
SMEINARilstone JJ.2012
SMENAXu X.2014
SMEDe novoDjemie T.2016
SMEINAHaginoya K.2018
Epilepsy and/or NDDNALindy AS.2018

Functional information:
NumberNucleotide changeProtein changeLocationPhenotypeFunctional defect type Details of the major biophysical abnormalities.Reference
8c.1178G>Ap.Arg393His(R393H)DIS5-S6SMEI LOF No measurable sodium current.Ohmori I.2006

[c.1178G>A] Clinical description

 The first seizure of the patient was presented with myoclonic seizure at the age of six months, and then myoclonic seizure frequency was daily. Thereafter the patent occurred other seizures including secondary generalized tonic clonic seizures,  absence seizures, complex partial seizures and status epilepticus. The patient had severe mental retardation, ataxia and therapy resistant during following up for 7.5 years(Claes L,et al. Hum Mutat. 2003 Jun;21(6):615-21.[12754708]).