|Number||Exon/Intron||Nucleotide change||Protein change||Location||Mutation type||Consequences||Phenotype||Inheritance||Reference|
|814||16||c.2954A>T||p.Asn985Ile||DIIS6||Missense||P/O→N (149); LOF||SMEI||NA||Fujiwara T.2003|
|Number||Nucleotide change||Protein change||Location||Phenotype||Functional defect type||Details of the major biophysical abnormalities.||Reference|
|24||c.2954A>T||p.Asn985Ile(N985I)||DIIS6||SMEI||LOF||Extremely small Na+ currents, generate non-functional channel.||Sugawara T. 2003|
|[c.2954A>T] Clinical description|
The first seizure of the female patient, 25-years-old, was presented with hemiclonic seizures at the age of four months. Thereafter the patient occurred other seizures including complex partial seizures at the age of three years, myoclonic seizure from the ageof three to six years, and generalized tonic clonic seizures with daily after the age of four months. The patient had severe mental decline. There had no familial history of FS or epilepsies. The CT scan was normal and the electroencephalogram analysis showed spike-wave complex, spikes in bilateral frontal and left frontal region(Fujiwara T,et al. Brain. 2003 Mar;126(Pt 3):531-46. ).
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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.