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.
Epilepsy and SUDEP-like events in neurons without structural cardiac defects; neuronal Depdc5 loss sufficient to cause fatal seizures absent cardiac triggers
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
Epilepsy; SUDEP; mTOR/GATOR1 pathway; neuronal-specific gene deletion; neurocardiac evaluation
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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