Article
Cardiac Investigations in Sudden Unexpected Death in DEPDC5-Related Epilepsy.
Annals of neurology - 1 Jan 2022
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
Abstract excerpt
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 haploinsufficiency predisposes to primary cardiac defects that could contribute to SUDEP and therefore impact the clinical...
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