<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
-
<i>DEPDC5</i>-related familial focal epilepsy
by: T. V. Kozhanova, et al.
Published: (2023-12-01) -
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) -
LEVETINOL IN COMPLEX TREATMENT OF FOCAL EPILEPSY (EXPERIENCE OF EPILEPTOLOGIST IN OUTPATIENT NETWORK, MOSCOW)
by: G. G. Avakyan, et al.
Published: (2016-05-01) -
CLINICAL AND ELECTROENCEPHALOGRAPHIC CHARACTERISTICS OF IDIOPATHIC CHILDHOOD FOCAL EPILEPSY WITH CENTROTEMPORAL SPIKES
by: K. Yu. Mukhin
Published: (2015-11-01) -
Efficiency of vagus nerve stimulation in epilepsy (literature review and case report)
by: O. A. Pylaeva, et al.
Published: (2019-07-01)