en
Scientific article
Open access
English

Cardiac Investigations in Sudden Unexpected Death in DEPDC5‐Related Epilepsy

Published inAnnals of neurology
First online date2021-10-24
Abstract

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 haploinsufficiency predisposes to primary cardiac defects that could contribute to SUDEP and therefore impact the clinical management of patients at high risk of SUDEP.

eng
Funding
  • European Commission - NEUROBIOLOGY OF EPILEPSY GENES [682345]
Citation (ISO format)
BACQ, Alexandre et al. Cardiac Investigations in Sudden Unexpected Death in <i>DEPDC5</i>‐Related Epilepsy. In: Annals of neurology, 2021. doi: 10.1002/ana.26256
Main files (1)
Article (Published version)
Identifiers
ISSN of the journal0364-5134
169views
388downloads

Technical informations

Creation11/17/2021 3:46:00 PM
First validation11/17/2021 3:46:00 PM
Update time03/16/2023 2:05:36 AM
Status update03/16/2023 2:05:35 AM
Last indexation02/12/2024 1:33:48 PM
All rights reserved by Archive ouverte UNIGE and the University of GenevaunigeBlack