AI Article Synopsis
- Study examines the risk of sudden unexpected death in epilepsy patients related to ictal central apnea (ICA) occurrences and features.
- Data from 108 patients with focal epilepsy were reviewed, who underwent extensive monitoring including video-EEG and genetic testing; 5 patients had pathogenic mutations detected.
- Results indicate a significant correlation between ICA and genetic variants, highlighting the importance of respiratory monitoring and genetic evaluation in focal epilepsy cases with unknown causes.
Article Abstract
Objectives: -related epilepsy carries an increased risk of sudden unexpected death in epilepsy. We evaluated the occurrence and features of ictal central apnea (ICA) in patients with pathogenic sequence variant in .
Methods: We reviewed data of 108 patients collected in 2 independent cohorts of patients with focal epilepsy who prospectively underwent long-term video-EEG monitoring (LTVM) with cardiorespiratory polygraphy. All patients underwent (1) at least an overnight polysomnography, (2) a high-field (3T) brain MRI study, and (3) CSF analysis when clinically indicated. Genetic testing (next-generation sequencing [NGS]) was offered for diagnostic purposes to patients with focal epilepsy of unknown etiology.
Results: In this cohort, NGS was finally performed in 29 patients, resulting in pathogenic mutations in 5 patients. According to the presence of ictal apnea events, 5 of 14 patients with ICA showed pathogenic variants (35%) while none of the 15 patients without ICA showed pathogenic mutation. Notably, patients showed ICA in all recorded seizures (n = 15) with apnea duration ranging from 20 seconds to more than 1 minute. All seizures were characterized by motor arrest without overt automatic behaviors during ictal apnea. Scalp EEG showed the involvement of temporal lobe leads in all events. Severe oxygen desaturation was observed in 2 cases.
Discussion: In our cohort, ictal central apnea was a common finding in . These results support (1) the need for respiratory polygraphy during LTVM in -related epilepsy and (2) the potential relevance of genetic testing in patients with focal epilepsy of unknown etiology and ictal apnea.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11458130 | PMC |
| http://dx.doi.org/10.1212/NXG.0000000000200183 | DOI Listing |
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