Meletti Stefano, Duma Gian Marco, Burani Margherita, Danieli Alberto, Giovannini Giada, Osanni Elisa, Micalizzi Elisa, Mambretti Fabiana, Pugnaghi Matteo, Vaudano Anna E, Bonanni Paolo
From the Department of Biomedical Metabolic Sciences and Neurosciences (S.M., M.B., E.M., A.E.V.), University of Modena and Reggio Emilia; Neurophysiology Unit and Epilepsy Centre (S.M., M.B., G.G., M.P., A.E.V.), Neuroscience Department, Modena AOU; Epilepsy Unit (G.M.D., A.D., E.O., P.B.), IRCCS E. Medea Scientific Institute, Conegliano; Neurophysiology Unit and Epilepsy Centre (E.M.), IRCCS Ospedale Policlinico San Martino, Genoa; and Laboratory of Molecular Genetics (F.M.), IRCCS E. Medea Scientific Institute, Bosisio Parini, Lecco, Italy.
Neurol Genet. 2024 Aug 12;10(5):e200183. doi: 10.1212/NXG.0000000000200183. eCollection 2024 Oct.
-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 .
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.
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.
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.
与……相关的癫痫患者发生癫痫猝死的风险增加。我们评估了……中具有致病序列变异的患者发作期中枢性呼吸暂停（ICA）的发生情况及特征。
我们回顾了在2个独立队列中收集的108例局灶性癫痫患者的数据，这些患者前瞻性地接受了长期视频脑电图监测（LTVM）及心肺多导记录。所有患者均接受了（1）至少一次夜间多导睡眠图检查，（2）一次高场（3T）脑部MRI检查，以及（3）临床指征明确时的脑脊液分析。对病因不明的局灶性癫痫患者进行基因检测（下一代测序[NGS]）以用于诊断目的。
在该队列中，最终对29例患者进行了NGS检测，5例患者检测到致病突变。根据发作期呼吸暂停事件的存在情况，14例有ICA的患者中有5例显示致病变异（35%），而15例无ICA的患者中均未显示致病突变。值得注意的是，……患者在所有记录的发作（n = 15）中均出现ICA，呼吸暂停持续时间从20秒到超过1分钟不等。所有发作的特征均为发作期呼吸暂停时运动停止且无明显自动行为。头皮脑电图显示所有事件中颞叶导联均有受累。2例患者观察到严重的氧饱和度下降。
在我们的队列中，发作期中枢性呼吸暂停在……中是一个常见发现。这些结果支持（1）在与……相关的癫痫患者进行LTVM期间需要进行呼吸多导记录，以及（2）基因检测在病因不明且有发作期呼吸暂停的局灶性癫痫患者中的潜在相关性。
