Dravet Syndrome: A Rare Form of Epilepsy.

IF 0.8 Q3 MEDICINE, GENERAL & INTERNAL
Case Reports in Medicine Pub Date : 2024-07-02 eCollection Date: 2024-01-01 DOI:10.1155/2024/6710512
Salwa Al Hosani, Sona Varghese
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引用次数: 0

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 SCN1A. 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.

德拉韦特综合征:一种罕见的癫痫。
德拉韦特综合征是一种罕见的严重癫痫,通常在婴儿期发病。它的特点是发作形式多样、认知能力退化、运动障碍和行为异常。大多数患者的电压门控钠通道α(I)基因SCN1A发生了突变。我们详细介绍了一名两岁患儿的情况,该患儿自 4 个月大开始就有反复癫痫发作的病史。经过基因检测,发现了一个杂合致病变体,从而确诊了该病。神经科医生、发育专家和物理治疗师采用多学科方法对患者进行了成功的治疗。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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来源期刊
Case Reports in Medicine
Case Reports in Medicine MEDICINE, GENERAL & INTERNAL-
CiteScore
1.70
自引率
0.00%
发文量
53
审稿时长
13 weeks
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