KCNMA1-Related Episodes of Behavioral Arrest and Loss of Postural Reflexes: A Critical Reappraisal.

IF 2.6 4区医学 Q2 CLINICAL NEUROLOGY

Movement Disorders Clinical Practice Pub Date : 2025-02-01 Epub Date: 2024-12-02 DOI:10.1002/mdc3.14289

Emmanuel Roze, Laura Silveira-Moriyama, Smaranda Leu-Semenescu, Nathalie Villeneuve, Bérénice Lecardonnel, Marie-Céline François-Heude, Pierre Meyer, Claudio M de Gusmao, Agathe Roubertie

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引用次数: 0

Abstract

Background: KCNMA1-linked channelopathy is characterized by neurodevelopmental disorder, epileptic seizures and non-epileptic paroxysmal episodes.

Objectives: To describe the phenotype of paroxysmal non-epileptic episodes related to KCNMA1 pathogenic variants.

Methods: Videos of paroxysmal episodes were reviewed according to a standardized protocol by a group of movement disorders experts.

Results: Fourteen videos were reviewed (6 previously published patients and a new patient). The typical pattern of an episode was (i) facial changes including dyskinetic movements of tongue and jaws (ii) behavioral arrest (iii) loss of postural reflexes that could be associated with focal body stiffness, eventually leading to fall (iv) rapid recovery without post-ictal drowsiness. Attacks were brief, with a high daily frequency, occasionally triggered by emotion, and dramatically improved by psychostimulant therapy in three patients.

Conclusions: KCNMA1-related attacks are clearly distinguishable from paroxysmal dyskinesia, cataplexy or episodic ataxia indicating a unique phenomenological entity whose recognition will enhance accurate diagnosis and treatment.

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kcnma1相关的行为停止和姿势反射丧失：一个重要的重新评估。

背景：kcnma1相关的通道病以神经发育障碍、癫痫发作和非癫痫性发作为特征。目的：描述与KCNMA1致病变异相关的阵发性非癫痫发作的表型。方法：由一组运动障碍专家根据标准化方案对发作性发作的视频进行审查。结果：回顾了14个视频（6个先前发表的患者和1个新患者）。发作的典型模式是：(i)面部变化，包括舌和颌的运动障碍；（ii）行为停止；（iii）姿势反射丧失，可能与局点体僵硬相关，最终导致跌倒；（iv）快速恢复，无产后嗜睡。发作时间短，每日频率高，偶尔由情绪引发，三名患者接受精神兴奋剂治疗后症状得到显著改善。结论：kcnma1相关的发作与阵发性运动障碍、发作性发作或发作性共济失调有明显的区别，表明其独特的现象学实体的识别将提高准确的诊断和治疗。

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来源期刊

Movement Disorders Clinical Practice CLINICAL NEUROLOGY-

CiteScore

4.00

自引率

7.50%

发文量

218

期刊介绍： Movement Disorders Clinical Practice- is an online-only journal committed to publishing high quality peer reviewed articles related to clinical aspects of movement disorders which broadly include phenomenology (interesting case/case series/rarities), investigative (for e.g- genetics, imaging), translational (phenotype-genotype or other) and treatment aspects (clinical guidelines, diagnostic and treatment algorithms)