Clinical and genetic characteristics of patients with type 2 early infantile epileptic encephalopathy caused by CDKL5 gene mutations

Clinical and genetic characteristics of patients with type 2 early infantile epileptic encephalopathy caused by CDKL5 gene mutations

Early infantile epileptic encephalopathies (EIEE) are a group of disorders characterized by pharmacoresistant epileptic seizures manifesting in infancy and leading to psychomotor retardation. The most common genetic variant with X-linked dominant inheritance is type 2 EIEE associated with CDKL5 gene...

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Bibliographic Details
Main Authors: E. L. Dadali, I. A. Akimova, F. A. Konovalov, P. A. Shatalov, A. Yu. Krasnenko, V. V. Strelnikov, M. A. Ampleeva
Format: Article
Language:Russian
Published: ABV-press 2020-01-01
Series:Русский журнал детской неврологии
Subjects:
ранняя эпилептическая энцефалопатия
эпилептические приступы
cdkl5
Online Access:https://rjdn.abvpress.ru/jour/article/view/307

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