<i>DEPDC5</i> mutations in familial epilepsy syndrome: genetic insights and therapeutic approaches
Background. DEPDC5 (disheveled, Egl-10 and pleckstrin domain-containing protein 5) familial epilepsy syndrome is a group of epilepsy disorders caused by mutations in DEPDC5 gene, which is a part of the gap activity towards rag 1 (GATOR1) complex involved in regulating the mechanism target of rapamyc...
Saved in:
| Main Authors: | M. K.C. Diallo, S. Mukesh, L. Kapil, R. Singla, D. Tar, S. N. Tammineedi, E. Singer, H. Chhayani, K. Arumaithurai, U. K. Patel, R. Arora |
|---|---|
| Format: | Article |
| Language: | Russian |
| Published: |
IRBIS LLC
2025-01-01
|
| Series: | Эпилепсия и пароксизмальные состояния |
| Subjects: | |
| Online Access: | https://www.epilepsia.su/jour/article/view/1152 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
Similar Items
-
GATOR1 gene variants in focal epilepsy
by: Kovačević Maša, et al.
Published: (2024-01-01) -
<i>DEPDC5</i>-related familial focal epilepsy
by: T. V. Kozhanova, et al.
Published: (2023-12-01) -
Incomplete penetrance and variable phenotypes of a novel NPRL2 frameshift variant: from familial focal epilepsy with variable foci 2 to neurodevelopmental disorders
by: Hui Zhu, et al.
Published: (2025-08-01) -
Epilepsia occipital benigna da infância de início precoce (tipo Panayiotopoulos): aspectos clínicos e eletrencefalográficos evolutivos em 14 crianças Early-onset benign childhood occipital epilepsy (Panayiotopoulos type): clinical and electroencephalographic features in 14 children
by: Lineu Correa Fonseca, et al.
Published: (2005-06-01) -
COMPARATIVE EFFICАCY AND TOLERABILITY OF MONOTHERAPY WITH DEPAKINE CHRONOSPHERE, DRUGS OF CARBAMAZEPINE GROUP WITH EXTENDED RELEASE AND OXCARBAZEPINE IN SYMPTOMATIC AND CRYPTOGENIC FOCAL EPILEPSY (SVT. LUKA’S INSTITUTE OF CHILD NEUROLOGY AND EPILEPSY)
by: K. Yu. Mukhin, et al.
Published: (2015-04-01)