Mutation information:
NumberExon/IntronNucleotide change Protein changeLocation Mutation typeConsequencesPhenotype InheritanceReference
4509c.1276T>Ap.Tyr426AsnDI-DII MissenseP/O→P/O (143); pLOFSMEIDe novoNabbout R.2003
SMEINAOhmori I.2006
SMEINAAllen NM.2016

Functional information:
NumberNucleotide changeProtein changeLocationPhenotypeFunctional defect type Details of the major biophysical abnormalities.Reference
9c.1276T>Ap.Tyr426Asn(Y426N)DI-DII (D-linkers)SMEI pLOF Reduced current density, reduced channel availability by negative shift of inactivation and slower recovery from inactivation.Ohmori I.2006

[c.1276T>A] 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 three years(Nabbout R, et al. Neurology. 2003 Jun 24; 60(12): 1961-7. [12821740]).