一名患有IQSEC2基因突变儿童的智力残疾、自闭症和癫痫的发育进程。
Developmental progression of intellectual disability, autism, and epilepsy in a child with an IQSEC2 gene mutation.
作者信息
Zipper Rachelle, Baine Sherri D, Genizi Jacob, Maoz Hen, Levy Nina S, Levy Andrew P
机构信息
Technion Faculty of Medicine Technion Israel Institute of Technology Haifa Israel.
Department of Pediatrics North York General Hospital University of Toronto Toronto Ontario Canada.
出版信息
Clin Case Rep. 2017 Aug 24;5(10):1639-1643. doi: 10.1002/ccr3.1139. eCollection 2017 Oct.
Abstract
The neurodevelopmental progression of a school-aged child with a spontaneous IQSEC2 mutation has demonstrated apparent regression of milestones and language. Seizures associated with the disorder have been refractory to medical treatment. Late treatment of autism in this child has led to improved social skills.
摘要
一名患有自发性IQSEC2基因突变的学龄儿童的神经发育进程显示出明显的发育里程碑和语言倒退。与该疾病相关的癫痫发作对药物治疗无效。对这名儿童的自闭症进行晚期治疗后，其社交技能有所改善。
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