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Kozhanova T.V.

Scientific and Practical Center of Children Medical Care, Moscow, Russia;
Pirogov Russian National Research Medical University, Moscow, Russia

Zhylina S.S.

Scientific and Practical Center of Children Medical Care, Moscow, Russia;
Pirogov Russian National Research Medical University, Moscow, Russia

Aĭvazian S.O.

Nauchno-prakticheskiĭ tsentr meditsinskoĭ pomoshchi detiam s porokami razvitiia cherepno-litsevoĭ oblasti i vrozhdennymi zabolevaniiami nervnoĭ sistemy Departamenta zdravookhraneniia Moskvy

Anan'eva T.V.

Nauchno-prakticheskiĭ tsentr meditsinskoĭ pomoshchi detiam s porokami razvitiia cherepno-litsevoĭ oblasti i vrozhdennymi zabolevaniiami nervnoĭ sistemy, Baku, Respublika Azerbaĭdzhan

Abramov A.A.

National Cardiology Research Center, Russian Ministry of Health, 3 Cherepkovskaya 15A, Moscow, 121552, Russian Federation

Belenikin M.S.

Scientific and Practical Center of Children Medical Care, Moscow, Russia

Meshcheryakova T.I.

Scientific and Practical Center of Children Medical Care, Moscow, Russia

Mutovin G.R.

Scientific and Practical Center of Children Medical Care, Moscow, Russia;
Pirogov Russian National Research Medical University, Moscow, Russia

Zavadenko N.N.

Kafedra nevrologii i neĭrokhirurgii pediatricheskogo fakulteta Rossiĭskogo gosudarstvennogo meditsinskogo universiteta, Moskva

The diagnosis of idiopathic epilepsy in children based on the algorithm of molecular-genetic studies

Authors:

Kozhanova T.V., Zhylina S.S., Aĭvazian S.O., Anan'eva T.V., Abramov A.A., Belenikin M.S., Meshcheryakova T.I., Mutovin G.R., Zavadenko N.N.

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Journal: S.S. Korsakov Journal of Neurology and Psychiatry. 2016;116(9‑2): 49‑56

DOI: 10.17116/jnevro20161169249-56

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THE DIAGNOSIS OF IDIOPATHIC EPILEPSY IN CHILDREN BASED ON THE ALGORITHM OF MOLECULAR-GENETIC STUDIES
THE DIAGNOSIS OF IDIOPATHIC EPILEPSY IN CHILDREN BASED ON THE ALGORITHM OF MOLECULAR-GENETIC STUDIES

To cite this article:

Kozhanova TV, Zhylina SS, Aĭvazian SO, et al. . The diagnosis of idiopathic epilepsy in children based on the algorithm of molecular-genetic studies. S.S. Korsakov Journal of Neurology and Psychiatry. 2016;116(9‑2):49‑56. (In Russ.)
https://doi.org/10.17116/jnevro20161169249-56

Подписка 2026 Журнал неврологии и психиатрии им. С.С. Корсакова. Спецвыпуски (S.S. Korsakov Journal of Neurology and Psychiatry (special issues))
 
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Abstract:

Objective. 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, c.2427G>A and c.1131A>C) were detected among 53 patients by direct Sanger sequencing of SCN1A gene. The mutations of SCN1A gene (2 — nonsense mutation, 5 — missense mutation) were identified in 7/40 (17.5%) patients with epilepsy using high-performance sequencing, Mutations in sodium channel genes encoding other subunits: SCN1B, SCN2A, SCN9A were identified in 6 patients. Conclusion. As epileptic encephalopathy is polygenic, it is important to conduct genetic testing of more genes (primarily sodium channel genes — SCN1B, SCN2A, SCN9A etc.) using special gene panels to find the molecular defect in DNA.

Keywords:

idiopathic epilepsy
children
molecular-genetic study

Authors:

Kozhanova T.V.

Scientific and Practical Center of Children Medical Care, Moscow, Russia;
Pirogov Russian National Research Medical University, Moscow, Russia

Zhylina S.S.

Scientific and Practical Center of Children Medical Care, Moscow, Russia;
Pirogov Russian National Research Medical University, Moscow, Russia

Aĭvazian S.O.

Nauchno-prakticheskiĭ tsentr meditsinskoĭ pomoshchi detiam s porokami razvitiia cherepno-litsevoĭ oblasti i vrozhdennymi zabolevaniiami nervnoĭ sistemy Departamenta zdravookhraneniia Moskvy

Anan'eva T.V.

Nauchno-prakticheskiĭ tsentr meditsinskoĭ pomoshchi detiam s porokami razvitiia cherepno-litsevoĭ oblasti i vrozhdennymi zabolevaniiami nervnoĭ sistemy, Baku, Respublika Azerbaĭdzhan

Abramov A.A.

National Cardiology Research Center, Russian Ministry of Health, 3 Cherepkovskaya 15A, Moscow, 121552, Russian Federation

Belenikin M.S.

Scientific and Practical Center of Children Medical Care, Moscow, Russia

Meshcheryakova T.I.

Scientific and Practical Center of Children Medical Care, Moscow, Russia

Mutovin G.R.

Scientific and Practical Center of Children Medical Care, Moscow, Russia;
Pirogov Russian National Research Medical University, Moscow, Russia

Zavadenko N.N.

Kafedra nevrologii i neĭrokhirurgii pediatricheskogo fakulteta Rossiĭskogo gosudarstvennogo meditsinskogo universiteta, Moskva

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