<i>DEPDC5</i> mutations in familial epilepsy syndrome: genetic insights and therapeutic approaches

<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...

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Bibliographic Details
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:
depdc5
mtor
gator1
familial focal epilepsy with variable foci
ffevf
magnetic resonance imagery
mri
sudden unexplained death in epilepsy
sudep
electroencephalogram
eeg
focal cortical dysplasia
fcd
Online Access:https://www.epilepsia.su/jour/article/view/1152
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https://www.epilepsia.su/jour/article/view/1152

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