Genetic epilepsy caused by CDKL5 gene mutations as an example of epileptic encephalopathy and developmental encephalopathy: literature review and own observations

The disease caused by mutations in the CDKL5 gene (encoding cyclin-dependent kinase 5, CDK5) belongs to the group of early (infantile) epileptic encephalopathies caused by alterations in the genome. Currently, the disease is called “developmental encephalopathy and epileptic encephalopathy type 2”....

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Bibliographic Details
Main Authors: K. Yu. Mukhin, O. A. Pylaeva, M. Yu. Bobylova, V. A. Chadaev
Format: Article
Language:Russian
Published: ABV-press 2021-07-01
Series:Русский журнал детской неврологии
Subjects:
Online Access:https://rjdn.abvpress.ru/jour/article/view/360