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”....
Saved in:
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 |
Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
Similar Items
-
Clinical and genetic characteristics of patients with type 2 early infantile epileptic encephalopathy caused by CDKL5 gene mutations
by: E. L. Dadali, et al.
Published: (2020-01-01) -
Developmental encephalopathy and epilepsy associated with a heterozygous de novo mutation in the IRF2BPL gene: a case report
by: N. G. Lyukshina, et al.
Published: (2021-07-01) -
Dynamics of management of monogenic epilepsies, developmental and epileptic encephalopathies in routine clinical practice
by: О. A. Rakhmanina, et al.
Published: (2025-01-01) -
Severe <i>KCNT1</i>-related developmental and epileptic encephalopathy
by: A. G. Malov, et al.
Published: (2025-07-01) -
Clinical features of developmental and epileptic encephalopathy caused by <i>KCNQ2</i> gene mutation
by: А. G. Malov, et al.
Published: (2023-12-01)