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Abstract：
Background: Ictal bradycardia (IB) and asystole (IA) represent a rare but potentially harmful feature of epileptic seizures. The aim of this study was to study IB/IA in patients with sleep-related hypermotor epilepsy (SHE). Methods: We retrospectively included cases with video-EEG-confirmed SHE who attended our Institute up to January 2021. We reviewed the ictal polysomnography recordings focusing on ECG and identified cases with IB (R-R interval ≥ 2 s or a ≥10% decrease of baseline heart rate) and IA (R-R interval ≥ 4 s). Results: We included 200 patients (123 males, 61.5%), with a mean age of 42 ± 16 years. Twenty patients (20%) had focal cortical dysplasia (FCD) on brain MRI. Eighteen (out of 104 tested, 17.3%) carried pathogenic variants (mTOR pathway, n = 10, nAchR subunits, n = 4, KCNT1, n = 4). We identified IB/IA in four cases (2%): three had IA (mean 10 s) and one had IB. Three patients had FCD (left fronto-insular region, left amygdala, right mid-temporal gyrus) and two had pathogenic variants in DEPDC5; both features were more prevalent in patients with IB/IA than those without (p = 0.003 and p = 0.037, respectively). Conclusions: We identified IB/IA in 2% of patients with SHE and showed that this subgroup more frequently had FCD on brain MRI and pathogenic variants in genes related to the mTOR pathway.
摘要：
背景：心动过缓（IB）和心搏停止（IA）是一种罕见但潜在有害的癫痫发作特征。这项研究的目的是研究睡眠相关性高运动型癫痫（SHE）患者的IB/IA。方法：我们回顾性纳入了2021年1月之前在我们研究所就诊的视频EEG证实的SHE病例。我们回顾了针对ECG的发作性多导睡眠图记录，并确定了IB（R-R间期≥2s或基线心率降低≥10％）和IA（R-R间期≥4s）的病例。结果：我们纳入了200例患者(123例男性，61.5%），平均年龄42±16岁。20例患者（20％）在脑MRI上有局灶性皮质发育不良（FCD）。18个(在104个测试中，17.3%)携带致病性变异(mTOR途径，n=10，nAchR亚基，n=4,KCNT1,n=4)。我们在4例（2％）中确定了IB/IA：3例患有IA（平均10s），1例患有IB。三名患者患有FCD（左额岛区，左杏仁核,右颞中回）和两个在DEPDC5中具有致病性变异；IB/IA患者的这两种特征比没有IB/IA的患者更普遍（分别为p=0.003和p=0.037）。结论：我们在2％的SHE患者中鉴定出IB/IA，并显示该亚组在脑MRI上更频繁地具有FCD和与mTOR通路相关的基因的致病变异。
