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德雷维特综合征:一种罕见的癫痫形式。

Dravet Syndrome: A Rare Form of Epilepsy.

作者信息

Hosani Salwa Al, Varghese Sona

机构信息

Department of Psychiatry Sheikh Khalifa Medical City, P.O. Box 51900, Abu Dhabi, UAE.

出版信息

Case Rep Med. 2024 Jul 2;2024:6710512. doi: 10.1155/2024/6710512. eCollection 2024.

Abstract

Dravet syndrome is a rare and severe form of epilepsy that usually emerges in infancy. It is characterized by diverse seizure patterns, cognitive regression, motor impairments, and behavioral abnormalities. The majority of patients with this condition have mutations involving the voltage-gated sodium channel alpha (I) gene . We present a detailed account of a two-year-old child with a history of recurrent seizures since the age of 4 months. Genetic testing was performed which revealed a heterozygous pathogenic variant, confirming the diagnosis. The patient was managed successfully by a multidisciplinary approach involving neurologists, developmental specialists, and physical therapists.

摘要

德雷维特综合征是一种罕见且严重的癫痫形式,通常在婴儿期出现。其特征为多种发作模式、认知衰退、运动障碍和行为异常。大多数患有这种疾病的患者存在涉及电压门控钠通道α(I)基因的突变。我们详细介绍了一名自4个月大起就有癫痫复发史的两岁儿童。进行了基因检测,结果显示存在杂合致病性变异,从而确诊。该患者通过由神经科医生、发育专家和物理治疗师组成的多学科方法得到了成功治疗。

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