Severe <i>KCNT1</i>-related developmental and epileptic encephalopathy
Developmental and epileptic encephalopathy (DEE) caused by a mutation in the KCNT1 gene (KCNT1-DEE) is registered in the Online Mendelian Inheritance in Man (OMIM) catalogue inder code number 614959. Alternative names: DEE 14, early infantile epileptic encephalopathy 14. KCNT1-DEE most often manifes...
Saved in:
Main Authors: | A. G. Malov, L. Yu. Brokhin, A. V. Veselkova |
---|---|
Format: | Article |
Language: | Russian |
Published: |
IRBIS LLC
2025-07-01
|
Series: | Эпилепсия и пароксизмальные состояния |
Subjects: | |
Online Access: | https://www.epilepsia.su/jour/article/view/1211 |
Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
Similar Items
-
Clinical features of developmental and epileptic encephalopathy caused by <i>KCNQ2</i> gene mutation
by: А. G. Malov, et al.
Published: (2023-12-01) -
Genetic epilepsy caused by CDKL5 gene mutations as an example of epileptic encephalopathy and developmental encephalopathy: literature review and own observations
by: K. Yu. Mukhin, et al.
Published: (2021-07-01) -
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) -
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)