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伴有基因突变的德雷维特综合征:一种罕见病症。

Dravet syndrome with gene mutation: A rare entity.

作者信息

Mukherjee Devdeep, Mukherjee Swapan, Niyogi Prabal, Mahapatra Manas

机构信息

Department of Pediatric Medicine and Pediatric Neurology, Institute of Child Health, Kolkata, West Bengal, India.

出版信息

Neurol India. 2017 Jul-Aug;65(4):801-803. doi: 10.4103/neuroindia.NI_1115_15.

Abstract

Early infantile epileptic encephalopathy has a grave outcome. Dravet syndrome (DS), characterized by early onset, refractory seizures, and intellectual deficit is one of the variants of the condition. SCN1B gene mutation is one of the lesser known variants of DS. Increased awareness of genetic analysis has increased the early diagnosis of DS for an early prognostication as well as genetic counselling of parents. We present the case of a 7-month old male child who started having recurrent febrile, and thereafter, afebrile seizures, following administration of a vaccination at 3 months. He developed global developmental delay, and is presently on multiple anticonvulsants. Genetic analysis was suggestive of SCN1B gene mutation associated with DS.

摘要

早期婴儿癫痫性脑病预后严重。德雷韦综合征(DS)以发病早、难治性癫痫发作和智力缺陷为特征,是该病的一种变体。SCN1B基因突变是DS鲜为人知的变体之一。对基因分析认识的提高增加了DS的早期诊断,以便进行早期预后评估以及为父母提供遗传咨询。我们报告一例7个月大男童的病例,该患儿在3个月大接种疫苗后开始出现反复发热性惊厥,此后又出现无热惊厥。他出现了全面发育迟缓,目前正在使用多种抗惊厥药物。基因分析提示与DS相关的SCN1B基因突变。

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