自限性家族性新生儿癫痫患儿早发性眼部危象1例

Brain disorders (Amsterdam, Netherlands) Pub Date : 2025-03-26 DOI:10.1016/j.dscb.2025.100215

Alise Skoromka , Sandis Kovaļovs

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引用次数: 0

摘要

背景眼球震颤危象在 KCNQ2 相关疾病中较少报道。本病例报告旨在说明 KCNQ2 相关疾病的临床变异性，并强调基因诊断在新生儿癫痫中的重要性。目的介绍一例与遗传性 KCNQ2 基因突变相关的独特的自限性家族性新生儿癫痫，强调眼球震颤危机的发生。方法采用临床评估、脑电图、磁共振成像和全外显子组测序进行基因检测。基因分析显示，她的母亲遗传了一个致病的 KCNQ2 重复基因。该病例强调了 KCNQ2 相关疾病的表型变异性以及基因检测在完善诊断和管理中的作用。

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Early-onset oculogyric crises in an infant with self-limited familial neonatal epilepsy : A case report

Background

Oculogyric crises have been less commonly reported in KCNQ2-related disorders. This case report aims to illustrate the clinical variability of KCNQ2-related disorders and emphasize the importance of genetic diagnostics in neonatal epilepsy.

Objective

To present a unique case of self-limited familial neonatal epilepsy associated with an inherited KCNQ2 mutation, highlighting the occurrence of oculogyric crises.

Methods

Clinical evaluation, electroencephalography, magnetic resonance imaging, and genetic testing via whole-exome sequencing was utilized.

Results

A female infant exhibited early-onset seizures and atypical oculogyric crises. Genetic analysis revealed a pathogenic KCNQ2 duplication inherited from the mother. Treatment with valproic acid led to seizure control, and follow-up demonstrated normal psychomotor development.