|Number||Exon/Intron||Nucleotide change||Protein change||Location||Mutation type||Consequences||Phenotype||Inheritance||Reference|
|1587||26||c.5246G>A||p.Gly1749Glu||DIVS5-S6||Missense||N→P/﹣(98); pLOF||SMEI||De novo||Claes L.2003|
|Number||Nucleotide change||Protein change||Location||Phenotype||Functional defect type||Details of the major biophysical abnormalities.||Reference|
|47||c.5246G>A||p.Gly1749Glu(G1749E)||DIVS5-S6||SMEI||pLOF||Reduced current density, faster onset of slow inactivation.||Rhodes TH.2004|
|[c.5246G>A] Clinical description|
The first seizure of patient was presented with generalized tonic-clonic seizures (GTCS) with fever at the age of eight months. Thereafter the patient occurred other seizures including secondary GTCS, absence seizures, complex partial seizures, and myoclonic seizures with weekly after two years old. The patient had moderate retardation, ataxia and therapy resistant during following up for 12.5 years(Claes L,et al. Hum Mutat. 2003 Jun;21(6): 615-21. ).
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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.