|Number||Exon/Intron||Nucleotide change||Protein change||Location||Mutation type||Consequences||Phenotype||Inheritance||Reference|
|450||9||c.1276T>A||p.Tyr426Asn||DI-DII||Missense||P/O→P/O (143); pLOF||SMEI||De novo||Nabbout R.2003|
|Number||Nucleotide change||Protein change||Location||Phenotype||Functional defect type||Details of the major biophysical abnormalities.||Reference|
|9||c.1276T>A||p.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. ).
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Key Laboratory of Neurogenetics and Channelopathies of Guangdong Province and the Ministry of Education of China
Collaborative Innovation Center for Neurogenetics and Channelopathies, Guangzhou 510260, China.