Cardiac Investigations in Sudden Unexpected Death in DEPDC5 ‐Related Epilepsy

OBJECTIVE: Germline loss‐of‐function mutations in DEPDC5, and in its binding partners (NPRL2/3) of the mammalian target of rapamycin (mTOR) repressor GATOR1 complex, cause focal epilepsies and increase the risk of sudden unexpected death in epilepsy (SUDEP). Here, we asked whether DEPDC5 haploinsuff...

Descripción completa

Detalles Bibliográficos
Autores principales: Bacq, Alexandre, Roussel, Delphine, Bonduelle, Thomas, Zagaglia, Sara, Maletic, Marina, Ribierre, Théo, Adle‐Biassette, Homa, Marchal, Cécile, Jennesson, Mélanie, An, Isabelle, Picard, Fabienne, Navarro, Vincent, Sisodiya, Sanjay M., Baulac, Stéphanie
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2021
Materias:
Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9299146/
https://www.ncbi.nlm.nih.gov/pubmed/34693554
http://dx.doi.org/10.1002/ana.26256

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9299146/
https://www.ncbi.nlm.nih.gov/pubmed/34693554
http://dx.doi.org/10.1002/ana.26256

Ejemplares similares