Mutation information:
NumberExon/IntronNucleotide change Protein changeLocation Mutation typeConsequencesPhenotype InheritanceReference
2165c.680T>Gp.Ile227SerDIS4 MissenseN→P/O (142); LOFSMEI2De novo; 1NANabbout R.2003
SMEB-SWNabbout R.2003
SMEIDe novoMancardi MM.2006
SMEIDe novoDepienne C.2009
SMEINAWang JW.2012
Epilepsy and/or NDDNALindy AS.2018

Functional information:
NumberNucleotide changeProtein changeLocationPhenotypeFunctional defect type Details of the major biophysical abnormalities.Reference
5c.680T>Gp.Ile227Ser(I227S)DIS4SMEI LOF No measurable sodium current.Ohmori I.2006

[c.680T>G] Clinical description

No detail description in article. Files of current patients with SMEI at participating centers were reviewed by a panel of experts who selected those who fulfilled the following criteria: no history of acquired brain injury; normal cognitive and motor development before seizure onset; onset of febrile or afebrile seizures, generalized or unilateral, before age one year; myoclonic jerks; intractable epilepsy; psychomotor delay within two years of seizure onset; normal MRI results in the first year of the seizure disorder; and a minimum follow-up of three years(Nabbout R, et al. Neurology. 2003 Jun 24; 60(12): 1961-7. [12821740]).