Electro-Clinical Features and Functional Connectivity Analysis in SYN1-Related Epilepsy

IF 7.7 1区医学 Q1 CLINICAL NEUROLOGY Annals of Neurology Pub Date : 2024-08-23 DOI:10.1002/ana.27063

Vincent Moya Quiros MD, Ahmed Adham MD, Philippe Convers MD, Gaetan Lesca MD, PhD, François Mauguiere MD, PhD, Hugo Soulier MD, Alexis Arzimanoglou MD, PhD, Allan Bayat MD, PhD, Hilde Braakman MD, PhD, Jean-Philippe Camdessanche MD, PhD, Philippe Casenave MD, Laurence Chaton MD, Yves Chaix MD, PhD, Maxime Chochoi MD, Christel Depienne PhD, Vincent Desportes MD, PhD, Jessie De Ridder MD, Vera Dinkelacker MD, PhD, Elena Gardella MD, PhD, Gerhard J. Kluger MD, PhD, Julien Jung MD, PhD, Martine Lemesle Martin MD, Maria Margherita Mancardi MD, PhD, Markus Mueller MD, Anne-Lise Poulat MD, Konrad Platzer MD, Agathe Roubertie MD, PhD, Marijn F. Stokman MD, PhD, Anneke T. Vulto-van Silfhout MD, PhD, Gert Wiegand MD, PhD, Laure Mazzola MD, PhD

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Abstract

Objective

There is currently scarce data on the electroclinical characteristics of epilepsy associated with synapsin 1 (SYN1) pathogenic variations. We examined clinical and electro-encephalographic (EEG) features in patients with epilepsy and SYN1 variants, with the aim of identifying a distinctive electroclinical pattern.

Methods

In this retrospective multicenter study, we collected and reviewed demographic, genetic, and epilepsy data of 19 male patients with SYN1 variants. Specifically, we analyzed interictal EEG data for all patients, and electro-clinical data from 10 epileptic seizures in 5 patients, using prolonged video-EEG monitoring recordings. Inter-ictal EEG functional connectivity parameters and frequency spectrum of the 10 patients over 12 years of age, were computed and compared with those of 56 age- and sex-matched controls.

Results

The main electroclinical features of epilepsy in patients with SYN1 were (1) EEG background and organization mainly normal; (2) interictal abnormalities are often rare or not visible on EEG; (3) more than 60% of patients had reflex seizures (cutaneous contact with water and defecation being the main triggers) isolated or associated with spontaneous seizures; (4) electro-clinical semiology of seizures was mainly temporal or temporo-insulo/perisylvian with a notable autonomic component; and (5) ictal EEG showed a characteristic rhythmic theta/delta activity predominating in temporo-perisylvian regions at the beginning of most seizures. Comparing patients with SYN1 to healthy subjects, we observed a shift to lower frequency bands in power spectrum of interictal EEG and an increased connectivity in both temporal regions.

Interpretation

A distinct epilepsy syndrome emerges in patients with SYN1, with a rather characteristic clinical and EEG pattern suggesting predominant temporo-insular involvement. ANN NEUROL 2025;97:34–50

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SYN1相关癫痫的电临床特征和功能连接性分析

目的：目前，有关与突触素1（SYN1）致病变异相关的癫痫的电临床特征的数据很少。我们研究了癫痫和 SYN1 变异患者的临床和脑电图（EEG）特征，旨在确定一种独特的临床电模式：在这项回顾性多中心研究中，我们收集并审查了19名SYN1变异体男性患者的人口统计学、遗传学和癫痫数据。具体来说，我们分析了所有患者的发作间期脑电图数据，并利用长时间视频脑电图监测记录分析了 5 名患者 10 次癫痫发作的电临床数据。计算了10名12岁以上患者发作间期脑电图功能连接参数和频谱，并与56名年龄和性别匹配的对照组进行了比较：SYN1患者癫痫的主要电临床特征是：(1)脑电图背景和组织主要正常；(2)发作间期异常通常很少见或在脑电图上不明显；(3)60%以上的患者有反射性发作（皮肤接触水和排便是主要诱因），与自发性发作隔离或伴有反射性发作；(4) 癫痫发作的电-临床特征主要是颞叶或颞内/外周，并伴有明显的自主神经成分；以及 (5) 发作期脑电图显示，在大多数癫痫发作开始时，颞外周区域会出现特有的节律性θ/δ活动。将 SYN1 患者与健康受试者进行比较，我们观察到发作间期脑电图的功率谱向低频带转移，两个颞区的连接性增强：SYN1患者会出现一种独特的癫痫综合征，其临床和脑电图模式颇具特征性，表明主要受累于颞岛部。ann neurol 2024.

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来源期刊

Annals of Neurology 医学-临床神经学

CiteScore

18.00

自引率

1.80%

发文量

270

审稿时长

3-8 weeks

期刊介绍： Annals of Neurology publishes original articles with potential for high impact in understanding the pathogenesis, clinical and laboratory features, diagnosis, treatment, outcomes and science underlying diseases of the human nervous system. Articles should ideally be of broad interest to the academic neurological community rather than solely to subspecialists in a particular field. Studies involving experimental model system, including those in cell and organ cultures and animals, of direct translational relevance to the understanding of neurological disease are also encouraged.