|Number||Exon/Intron||Nucleotide change||Protein change||Location||Mutation type||Consequences||Phenotype||Inheritance||Reference|
|816||16||c.2956C>T||p.Leu986Phe||DIIS6||Missense||N→N (22); LOF||SMEI||De novo||Claes L.2001|
|Number||Nucleotide change||Protein change||Location||Phenotype||Functional defect type||Details of the major biophysical abnormalities.||Reference|
|25||c.2956C>T||p.Leu986Phe(L986F)||DIIS6||SMEI||LOF||No measurable sodium current.||Lossin C.2003|
|[c.2956C>T] Clinical description|
The first seizure of the female patient, three-years-old, was presented with generalized tonic-clonic seizures with fever at the age of four months. Thereafter the patent occurred other seizures including myoclonic seizures, secondary generalized tonic clonic seizures, absence seizure, and simple partial seizures with rarely from 12 months of age. The patient had moderate mental retardation and ataxia. The drug-therapy was resistant(Claes L, et al. Am. J. Hum. Genet. 68:1327–1332, 2001 ).
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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.