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Article

Prevention of premature death and seizures in a Depdc5 mouse epilepsy model through inhibition of mTORC1.

Human molecular genetics - 28 May 2020

Klofas Lindsay K, Short Brittany P, Zhou Chengwen, Carson Robert P

Abstract excerpt

Mutations in DEP domain containing 5 (DEPDC5) are increasingly appreciated as one of the most common causes of inherited focal epilepsy. Epilepsies due to DEPDC5 mutations are often associated with brain malformations, tend to be drug-resistant, and have been linked to an increased risk of sudden unexplained death in epilepsy (SUDEP). Generation of epilepsy models to define mechanisms of epileptogenesis remains...

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Identifiers

PMID: 32280987
DOI: 10.1093/hmg/ddaa068
PMCID: PMC7254848

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