Cardiac investigations in sudden unexpected death in DEPDC5-related epilepsy

Bacq A
Sorbonne University
January 1, 2022
Ann Neurol
https://pubmed.ncbi.nlm.nih.gov/34693554

This article is currently being updated. View its version on PubMed.

https://pubmed.ncbi.nlm.nih.gov/34693554

Research summary

Germline DEPDC5 mutations cause focal epilepsy and increased SUDEP risk. In patients and genOway mouse models (HA‑Depdc5 Knockin and neuron-specific Depdc5 conditional Knockout), in vivo EEG‑ECG recordings revealed fatal seizures with no preceding cardiac arrhythmia, implicating brain-origin mechanisms.

Key outcome of the study

Epilepsy and SUDEP-like events in neurons without structural cardiac defects; neuronal Depdc5 loss sufficient to cause fatal seizures absent cardiac triggers

Model

HA‑Depdc5 Knockin (endogenous N‑terminal HA tag; LoxP-flanked exons 1–3) and Depdc5 conditional Knockout (Depdc5 c/–) (Syn1‑Cre–driven neuronal deletion) — genOway‑developed, C57BL/6

TARGET:
Depdc5
Synonyms:
DEE111; DEP.5; FFEVF; FFEVF1; FPEVF

Keywords

Epilepsy; SUDEP; mTOR/GATOR1 pathway; neuronal-specific gene deletion; neurocardiac evaluation

Technical specifications

HA‑tag Knockin allele; conditional Depdc5 Knockout; Syn1‑Cre neuronal-specific deletion; simultaneous EEG‑ECG telemetry; autopsy and cardiac functional assessment

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