Suppr超能文献

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。

相似文献

1
Dravet Syndrome: A Rare Form of Epilepsy.德雷维特综合征:一种罕见的癫痫形式。
Case Rep Med. 2024 Jul 2;2024:6710512. doi: 10.1155/2024/6710512. eCollection 2024.
4
Dravet Syndrome: A Developmental and Epileptic Encephalopathy.德拉韦综合征:一种发育性癫痫性脑病。
Epilepsy Curr. 2019 Jan;19(1):51-53. doi: 10.1177/1535759718822038. Epub 2019 Jan 30.
9
Outcomes and comorbidities of SCN1A-related seizure disorders.与SCN1A相关的癫痫疾病的结局与共病情况。
Epilepsy Behav. 2019 Jan;90:252-259. doi: 10.1016/j.yebeh.2018.09.041. Epub 2018 Dec 5.

本文引用的文献

3
Therapeutic advances in Dravet syndrome: a targeted literature review.德雷维特综合征的治疗进展:一项针对性文献综述。
Expert Rev Neurother. 2020 Oct;20(10):1065-1079. doi: 10.1080/14737175.2020.1801423. Epub 2020 Aug 16.
5
Dravet Syndrome: An Overview.德雷维特综合征概述
Cureus. 2019 Jun 26;11(6):e5006. doi: 10.7759/cureus.5006.
10
Incidence of Dravet Syndrome in a US Population.美国人群中德雷维特综合征的发病率。
Pediatrics. 2015 Nov;136(5):e1310-5. doi: 10.1542/peds.2015-1807. Epub 2015 Oct 5.

文献检索

告别复杂PubMed语法,用中文像聊天一样搜索,搜遍4000万医学文献。AI智能推荐,让科研检索更轻松。

立即免费搜索

文件翻译

保留排版,准确专业,支持PDF/Word/PPT等文件格式,支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述,25分钟生成高质量综述,智能提取关键信息,辅助科研写作。

立即免费体验