Mutation information:
NumberExon/IntronNucleotide change Protein changeLocation Mutation typeConsequencesPhenotype InheritanceReference
98319c.3733C>Tp.Arg1245XDIIIS1-S2NonsenseHaploinsufficiency;LOFSMEIDe novoNabbout R.2003
SMEIDe novoHarkin LA.2007
SMEI1De novo;1NADepienne C.2009
SMEI1De novo;1NAZuberi SM.2011
SMEINAArlier Z.2010
SMENACraig AK.2012
SMENAMoehring J.2013
SMENAXu X.2014
Epilepsy and/or NDDNALindy AS.2018

Functional information:
NumberNucleotide changeProtein changeLocationPhenotypeFunctional defect type Details of the major biophysical abnormalities.Reference
29c.3733C>Tp.Arg1245X(R1245X) (Arg1234X,R1234X)DIII S1-S2SMEILOFDo not generate Na+ current; slow down recovery from fast inactivation.Bechi G.2012

[c.3733C>T] 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 1 year; myoclonic jerks; intractable epilepsy; psychomotor delay within 2 years of seizure onset; normal MRI results in the first year of the seizure disorder; and a minimum follow-up of 3 years(Nabbout R, et al. Neurology. 2003 Jun 24; 60(12): 1961-7. [12821740]).