Muccioli Lorenzo, Bruschi Giulia, Ferri Lorenzo, Scarabello Anna, Taruffi Lisa, Di Vito Lidia, Mostacci Barbara, Provini Federica, Calandra-Buonaura Giovanna, Tinuper Paolo, Licchetta Laura, Bisulli Francesca
Department of Biomedical and Neuromotor Sciences, University of Bologna, 40139 Bologna, Italy.
IRCCS Istituto delle Scienze Neurologiche di Bologna, ERN EpiCARE, 40139 Bologna, Italy.
J Clin Med. 2024 Mar 19;13(6):1767. doi: 10.3390/jcm13061767.
: 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). : 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). : 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, = 10, nAchR subunits, = 4, KCNT1, = 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 ; both features were more prevalent in patients with IB/IA than those without ( = 0.003 and = 0.037, respectively). : 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.
发作期心动过缓(IB)和心搏停止(IA)是癫痫发作中一种罕见但可能有害的特征。本研究的目的是研究睡眠相关运动过多性癫痫(SHE)患者中的IB/IA。
我们回顾性纳入了截至2021年1月在我院就诊且经视频脑电图证实为SHE的病例。我们回顾了发作期多导睡眠图记录,重点关注心电图,并确定了IB(R-R间期≥2秒或心率较基线下降≥10%)和IA(R-R间期≥4秒)的病例。
我们纳入了200例患者(123例男性,占61.5%),平均年龄为42±16岁。20例患者(20%)脑MRI显示局灶性皮质发育不良(FCD)。104例接受检测的患者中有18例(17.3%)携带致病变异(mTOR通路,n = 10;nAchR亚基,n = 4;KCNT1,n = 4)。我们在4例患者(2%)中发现了IB/IA:3例出现IA(平均10秒),1例出现IB。3例患者有FCD(左侧额岛叶区域、左侧杏仁核、右侧颞中回),2例有基因致病变异;这两个特征在有IB/IA的患者中比没有的患者更常见(分别为P = 0.003和P = 0.037)。
我们在2%的SHE患者中发现了IB/IA,并表明该亚组患者脑MRI上FCD以及与mTOR通路相关基因的致病变异更为常见。