SLC6A1基因突变致儿童失神发作1例并文献复习

发布时间：2018-01-27 06:11

本文关键词： 癫沲失神基因 SLCA　出处：《中国循证儿科杂志》2017年05期 　论文类型：期刊论文

【摘要】：目的探讨SLC6A1基因突变儿童失神发作的临床特征和基因变异。方法对2007年12月至2017年7月于复旦大学附属儿科医院神经科诊治随访的1例SLC6A1基因突变失神发作患儿的临床资料进行分析。以"SLC6A1"、"癫沲"及"SLC6A1"、"epilepsy"为关键词,对万方数据库、相关期刊论文和Pubmed建库至2017年6月收录的论文进行检索。总结SLC6A1基因突变患儿的临床表现及基因突变特点。结果患儿男,13岁,3岁发热时出现首次癫沲发作,表现为清醒时发呆、凝视伴眼睑扑动,肢体无明显抽搐,无跌倒,无尿便失禁,持续数秒缓解。后反复发作,持续数秒至数十秒,数周发作1次至1天内丛集性发作。患儿智力、运动发育迟缓,否认发育倒退,目前接受特殊教育,12岁行瑞文智力测试IQ 44。体格检查无特殊。脑电图检查背景活动正常,醒睡各期左侧颞区尖慢波发放以及广泛性3~3.5 Hz棘慢波阵发,并监测到清醒期多次典型失神发作。基因突变分析发现患儿SLC6A1基因存在杂合剪切突变c.370+1GT,父母未检测到该变异。该位点为罕见变异,位于经典的剪切位,经Mutation Taster预测为有害变异。共检索到5篇英文文献,包括本例患儿共12例(男3例)SLC6A1基因突变者,11例患儿有失神发作,其中典型失神和眼睑肌阵挛伴失神发作各5例,1例为不典型失神;共报道10种SLC6A1基因变异,其中5个为错义突变,2个为截短突变,1个为移码突变,1个为剪切突变,1个为染色体微缺失。结论 SLC6A1基因变异为失神发作伴精神运动发育迟缓或发育倒退的病因之一。
[Abstract]:Objective to investigate the clinical characteristics and gene variation of SLC6A1 gene mutation in children with aphasia. Methods: to follow up the diagnosis and treatment of aphasia in the Department of Neurology, Department of Pediatrics, Fudan University from December 2007 to July 2017. The clinical data of children with SLC6A1 gene mutation aphasia were analyzed. SLC6A1 ". "epileptic carbon" and "SLC6A1", "epilepsy" as the key words, on the Wanfang database. Chinese Journal Full-text Database and Pubmed database were searched in June 2017. The clinical manifestations and gene mutation characteristics of children with SLC6A1 gene mutation were summarized. The first epileptic seizure occurred at the age of 13 years and 3 years old with fever, which was manifested as waking stupor, staring with eyelid flutter, no obvious convulsion of limbs, no fall, anuria, incontinence, lasting several seconds, and then repeated attacks. It lasts from several seconds to tens of seconds, with a cluster attack of one to one day in a few weeks. Children with mental retardation, motor retardation, denial of developmental regress, are currently receiving special education. At 12 years of age, the IQ of Raven intelligence test was 44. There was no special physical examination. The background activity of EEG was normal, the release of the left temporal apical slow wave and the extensive 33.5 Hz spikes and slow-wave bursts were observed in every waking and sleeping period. Several typical aphasia episodes were detected during waking period. The gene mutation analysis showed that the SLC6A1 gene had heterozygous shear mutation c.3701GT. The mutation was not detected by parents. It was a rare mutation, located at the classical shear site and predicted as a harmful variation by Mutation Taster. Five English literatures were retrieved. There were 12 cases (3 males with mutation of SLC6A1 gene) and 11 cases with aphasia, including 5 cases of typical aphasia and 5 cases of palpebral myoclonus with aphasia. A total of 10 SLC6A1 mutations were reported, including 5 missense mutations, 2 truncated mutations, 1 frameshift mutation and 1 shearing mutation. Conclusion the mutation of SLC6A1 gene is one of the causes of psychomotor retardation or developmental retrogression.
【作者单位】：复旦大学附属儿科医院神经科;
【基金】：上海市卫生和计划生育委员会科研课题:201640065 上海市申康新兴前沿项目:SHDC12015113
【分类号】：R742.1
【正文快照】： 1病例资料患儿男,13岁。3岁5月龄时因“反复发呆发作5月余”于2007年12月首次就诊复旦大学附属儿科医院(我院),后在我院随访治疗。患儿于3岁龄发热时出现首次发作,表现为清醒时发呆伴眼睑扑动,肢体无明显抽搐,无跌倒,无尿便失禁,持续数秒缓解,以后反复发作,不伴发热,形式同前,

【相似文献】