本文關(guān)鍵詞： 交替性偏癱 ATPA基因 兒童　出處：《臨床兒科雜志》2017年02期 　論文類型：期刊論文

【摘要】：目的 探討兒童交替性偏癱的臨床表現(xiàn)、基因診斷及治療方法。方法 回顧性分析2例交替性偏癱患兒的臨床資料,并進行相關(guān)文獻復習。結(jié)果 2例患兒均為女性,分別于4月齡、6月齡起病,1例的首發(fā)癥狀為交替性偏癱,另1例的首發(fā)癥狀為驚厥,并于病程第2年出現(xiàn)交替性偏癱。ATP1A3基因測序顯示,2例患兒分別存在c.2401GA(p.D801N)和c.2731GC(p.A911P)雜合錯義突變,后者在人類基因突變數(shù)據(jù)庫(HGMD)專業(yè)版中尚未見報道。結(jié)論 對臨床診斷交替性偏癱的患兒,建議行ATP1A3基因篩查,有助于確診及遺傳咨詢。
[Abstract]:Objective to investigate the clinical manifestations, gene diagnosis and treatment of children with alternating hemiplegia. Methods the clinical data of 2 children with alternating hemiplegia were retrospectively analyzed and the related literature was reviewed. The first symptom of the disease was alternant hemiplegia in 1 case and convulsion in the other case. The sequence of the gene of the alternant hemiplegia and ATP-1A3 gene showed that there were two heterozygous missense mutations of c. 2401GA p. D801N and c. 2731GCp.A911P, respectively. The latter has not been reported in the professional edition of Human Gene mutation Database (HGMD). Conclusion for children with alternating hemiplegia, ATP1A3 gene screening is recommended for diagnosis and genetic counseling.
【作者單位】： 重慶醫(yī)科大學附屬兒童醫(yī)院兒童發(fā)育疾病研究教育部重點實驗室兒童發(fā)育重大疾病國家國際科技合作基地兒科學重慶市重點實驗室;

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1 袁超;兒童交替性偏癱家系ATP1A2基因檢測[D];山東大學;2010年

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本文編號：1539727