Peri-ictal respiratory dysfunction: Expanding the association between mTOR pathway disorders and ictal central apnea.

ABSTRACT: Among the etiologies of focal epilepsy, mutations of the GATOR1 complex genes-comprising NPRL3, NPRL2, and DEPDC5-are known to result in overactivation of mTORC1. A recent study highlighted an association between ictal and postictal central apnea (ICA) and pathogenic variants of DEPDC5. Here, we analyzed data from 134 patients across two independent cohorts diagnosed with focal epilepsy who underwent video-electroencephalographic long-term monitoring (VLTM) with cardiorespiratory polygraphy. Genetic testing results done for clinical-diagnostic purposes were reviewed in patients with epilepsy of unknown etiology and patients with magnetic resonance imaging (MRI)-defined/suspected focal cortical dysplasia (FCD). In 46 patients, we recorded at least one seizure associated with ICA. Genetic te

SUBMITTER: Burani M 

PROVIDER: S-EPMC12661263 | biostudies-literature | 2025 Nov

REPOSITORIES: biostudies-literature