Early epileptic encephalopathy associated with SCN2A mutations: clinical and genetic description of eight novel patients

Background. A large number of single gene disorders with seizures in clinical picture has been described. Among them, a special place is held by early-onset epileptic encephalopathies (EEE) – a genetically diverse group of disorders characterized by manifestation of seizures in the first 2 years of...

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Bibliographic Details
Main Authors: E. L. Dadali, F. A. Konovalov, I. A. Akimova, A. A. Sharkov, G. E. Rudenskaya, S. V. Mikhaylova, S. A. Korostelev
Format: Article
Language:Russian
Published: ABV-press 2018-07-01
Series:Нервно-мышечные болезни
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Online Access:https://nmb.abvpress.ru/jour/article/view/282
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