Numerous variants of the SCN2A gene have been identified, including missense mutations, deletions, insertions, frameshifting, nonsense mutations, and splice site mutations. The emergence of severe phenotypes is generally associated with de novo and missense variants. The clinical manifestations linked to SCN2A abnormal...
P. L. Sokolov, N. V. Chebanenko, Светлана Александровна Тулупова et al.· Zhurnal Nevrologii i Psikhia...· 0 citations
Clinical cases of patients with CP combined with focal epilepsy of childhood with structural brain changes and benign epileptiform discharges of childhood on electroencephalogram (FECSBC-BEDC) and infantile epileptic spasms syndrome are presented.
T. R. Tomenko, Zhuzhuna M. Tsotsonava, M. Y. Shchennikova et al.· Russian Journal of Child Neu...· 0 citations
This article addresses the ion channel dysfunction, the implicated protein systems that support channel function, and the relevance of synaptic and extrasynaptic localizations, as well as the role of neuroinflammation, endocrine factors, and the establishment of aberrant hyperexcitable neural networks.
P. L. Sokolov, N. V. Chebanenko, A. I. Krapivkin· Zhurnal Nevrologii i Psikhia...· 0 citations
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