本文關(guān)鍵詞： 癲沲 失神 基因 SLCA　出處：《中國(guó)循證兒科雜志》2017年05期 　論文類型：期刊論文

【摘要】：目的探討SLC6A1基因突變兒童失神發(fā)作的臨床特征和基因變異。方法對(duì)2007年12月至2017年7月于復(fù)旦大學(xué)附屬兒科醫(yī)院神經(jīng)科診治隨訪的1例SLC6A1基因突變失神發(fā)作患兒的臨床資料進(jìn)行分析。以"SLC6A1"、"癲沲"及"SLC6A1"、"epilepsy"為關(guān)鍵詞,對(duì)萬方數(shù)據(jù)庫、相關(guān)期刊論文和Pubmed建庫至2017年6月收錄的論文進(jìn)行檢索�？偨Y(jié)SLC6A1基因突變患兒的臨床表現(xiàn)及基因突變特點(diǎn)。結(jié)果患兒男,13歲,3歲發(fā)熱時(shí)出現(xiàn)首次癲沲發(fā)作,表現(xiàn)為清醒時(shí)發(fā)呆、凝視伴眼瞼撲動(dòng),肢體無明顯抽搐,無跌倒,無尿便失禁,持續(xù)數(shù)秒緩解。后反復(fù)發(fā)作,持續(xù)數(shù)秒至數(shù)十秒,數(shù)周發(fā)作1次至1天內(nèi)叢集性發(fā)作�；純褐橇�、運(yùn)動(dòng)發(fā)育遲緩,否認(rèn)發(fā)育倒退,目前接受特殊教育,12歲行瑞文智力測(cè)試IQ 44。體格檢查無特殊。腦電圖檢查背景活動(dòng)正常,醒睡各期左側(cè)顳區(qū)尖慢波發(fā)放以及廣泛性3~3.5 Hz棘慢波陣發(fā),并監(jiān)測(cè)到清醒期多次典型失神發(fā)作�；蛲蛔兎治霭l(fā)現(xiàn)患兒SLC6A1基因存在雜合剪切突變c.370+1GT,父母未檢測(cè)到該變異。該位點(diǎn)為罕見變異,位于經(jīng)典的剪切位,經(jīng)Mutation Taster預(yù)測(cè)為有害變異。共檢索到5篇英文文獻(xiàn),包括本例患兒共12例(男3例)SLC6A1基因突變者,11例患兒有失神發(fā)作,其中典型失神和眼瞼肌陣攣伴失神發(fā)作各5例,1例為不典型失神;共報(bào)道10種SLC6A1基因變異,其中5個(gè)為錯(cuò)義突變,2個(gè)為截短突變,1個(gè)為移碼突變,1個(gè)為剪切突變,1個(gè)為染色體微缺失。結(jié)論 SLC6A1基因變異為失神發(fā)作伴精神運(yùn)動(dòng)發(fā)育遲緩或發(fā)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.
【作者單位】： 復(fù)旦大學(xué)附屬兒科醫(yī)院神經(jīng)科;
【基金】：上海市衛(wèi)生和計(jì)劃生育委員會(huì)科研課題:201640065 上海市申康新興前沿項(xiàng)目:SHDC12015113
【分類號(hào)】：R742.1
【正文快照】： 1病例資料患兒男,13歲。3歲5月齡時(shí)因“反復(fù)發(fā)呆發(fā)作5月余”于2007年12月首次就診復(fù)旦大學(xué)附屬兒科醫(yī)院(我院),后在我院隨訪治療�；純河�3歲齡發(fā)熱時(shí)出現(xiàn)首次發(fā)作,表現(xiàn)為清醒時(shí)發(fā)呆伴眼瞼撲動(dòng),肢體無明顯抽搐,無跌倒,無尿便失禁,持續(xù)數(shù)秒緩解,以后反復(fù)發(fā)作,不伴發(fā)熱,形式同前,

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