Article
[The diagnosis of idiopathic epilepsy in children based on the algorithm of molecular-genetic studies].
Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova - 1 Jan 2000
Kozhanova T V, Zhylina S S, Aivazian S O, Ananyeva T V, Abramov A A, Belenikin M S, Meshcheryakova T I, Mutovin G R, Zavadenko N N
Abstract excerpt
AIM: To study mutations and polymorphisms in the sodium channels genes, determining the development of idiopathic epilepsy (IE). MATERIAL AND METHODS: The study of SCN1A gene by direct Sanger sequencing in 53 patients and targeted resequencing of the regions of 34 genes in 40 patients with different clinical forms of IE was performed. RESULTS: Seven mutations (c.3022G>T, c.3637C>T, c.1144G>T, c.80G>C, c.1603C>T,...
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