journal1 ›› 2016, Vol. 24 ›› Issue (12): 1343-1344.DOI: 10.11852/zgetbjzz2016-24-12-34
Received:2016-04-23
Online:2016-12-01
Published:2016-12-01
郑思锐,任榕娜
作者简介:郑思锐,女,福建人,住院医师,硕士学位,主要研究方向为儿童神经。
CLC Number:
郑思锐,任榕娜. 新发STXBP1基因突变致大田原综合征1例[J]. 中国儿童保健杂志, 2016, 24(12): 1343-1344.
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URL: http://cjchc.xjtu.edu.cn/EN/10.11852/zgetbjzz2016-24-12-34
| [1] Ohtahara S,Yamatogi Y.Ohtahara syndrome:With special reference to its developmental aspects for differentiating from early myoclonic encephalopathy[J].Epilepsy Research,2006,70(Suppl 1):58-67. [2] Jr ND.Epileptic encephalopathies in infants and children[J].Journal of Clinical Neurophysiology Official Publication of the American Electroencephalographic Society,2012,29(5):420-424. [3] Beal JC,Cherian K,Moshe SL.Early-onset epileptic encephalopathies:ohtahara syndrome and early myoclonic encephalopathy[J].Pediatric Neurology,2012,47(5):317-323. [4] 杨志仙,杨晓彤,张月华,等.大田原综合征15例临床及脑电图特征分析[J].中国实用儿科杂志,2011,27(3):190-194. [5] Nachanakian A,Hmaimess G,El-Helou A,et al.Early modified functional hemispherectomy in a young infant with ohtahara syndrome and hemimegalencephaly[J].Journal of Child Neurology,2015,30(4):522-526. [6] Thomas RH,Berkovic SF.The hidden genetics of epilepsy-a clinically important new paradigm[J].Nature Reviews Neurology,2014,10(5):283-292. [7] Pavone P,Spalice A,Polizzi A,et al.Ohtahara syndrome with emphasis on recent genetic discovery[J].Brain & Development,2012,34(6):459-468. [8] Otsuka M,Oguni H,Liang JS,et al.STXBP1,mutations cause not only Ohtahara syndrome but also west syndrome-result of Japanese cohort study[J].Epilepsia,2010,51(12):2449-2452. [9] Hamdan FF,Gauthier J,Dobrzeniecka S,et al.Intellectual disability without epilepsy associated with STXBP1 disruption.[J].European Journal of Human Genetics Ejhg,2011,19(5):607-609. [10] Sullivan PF,Daly MJ,O'Donovan M.Genetic architectures of psychiatric disorders:the emerging picture and its implications[J].Nature Reviews Genetics,2012,13(8):537-551. [11] Milh M,Villeneuve N,Chouchane M,et al.Epileptic and nonepileptic features in patients with early onset epileptic encephalopathy and STXBP1,mutations[J].Epilepsia,2011,52(10):1828-1834 |
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