[Diagnosis of alternating hemiplegia of childhood].
作者信息
Luo Rong
机构信息
Department of Pediatrics, West China Second Hospital, Sichuan University /Key Laboratory of Obstetric & Gynecologic and Pediatric Diseases and Birth Defects of Ministry of Education, Chengdu 610041, China.
出版信息
Zhongguo Dang Dai Er Ke Za Zhi. 2017 Sep;19(9):959-961. doi: 10.7499/j.issn.1008-8830.2017.09.004.
Abstract
摘要
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本文引用的文献
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Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood-a study of 155 patients.儿童交替性偏瘫中ATP1A3突变患者的临床特征——一项对155例患者的研究
Orphanet J Rare Dis. 2015 Sep 26;10:123. doi: 10.1186/s13023-015-0335-5.
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Clinical and genetic analysis in alternating hemiplegia of childhood: ten new patients from Southern Europe.儿童交替性偏瘫的临床与遗传学分析：来自南欧的10例新患者
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A novel SLC2A1 mutation linking hemiplegic migraine with alternating hemiplegia of childhood.一种将偏瘫性偏头痛与儿童交替性偏瘫相联系的新型SLC2A1突变。
Cephalalgia. 2015 Jan;35(1):10-5. doi: 10.1177/0333102414532379. Epub 2014 May 13.
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A wide clinical phenotype spectrum in patients with ATP1A2 mutations.ATP1A2 基因突变患者具有广泛的临床表型谱。
J Child Neurol. 2014 Feb;29(2):265-8. doi: 10.1177/0883073813504623. Epub 2013 Oct 4.
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Identification of ATP1A3 mutations by exome sequencing as the cause of alternating hemiplegia of childhood in Japanese patients.通过外显子组测序鉴定 ATP1A3 突变是日本患儿交替性偏瘫的病因。
PLoS One. 2013;8(2):e56120. doi: 10.1371/journal.pone.0056120. Epub 2013 Feb 8.
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Lack of SLC2A1 (glucose transporter 1) mutations in 30 Italian patients with alternating hemiplegia of childhood.30例意大利儿童交替性偏瘫患者中未发现SLC2A1（葡萄糖转运蛋白1）突变。
J Child Neurol. 2013 Jul;28(7):863-6. doi: 10.1177/0883073812452789. Epub 2012 Aug 16.
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Heterozygous de-novo mutations in ATP1A3 in patients with alternating hemiplegia of childhood: a whole-exome sequencing gene-identification study.杂合新生突变在伴有转换性偏瘫的儿童患者中的 ATP1A3 中：全外显子组测序基因鉴定研究。
Lancet Neurol. 2012 Sep;11(9):764-73. doi: 10.1016/S1474-4422(12)70182-5. Epub 2012 Jul 30.
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De novo mutations in ATP1A3 cause alternating hemiplegia of childhood.ATP1A3 中的新生突变导致儿童交替性偏瘫。
Nat Genet. 2012 Sep;44(9):1030-4. doi: 10.1038/ng.2358. Epub 2012 Jul 29.
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Alternating hemiplegia of childhood: metabolic studies in the largest European series of patients.儿童交替性偏瘫：最大欧洲患者系列的代谢研究。
Eur J Paediatr Neurol. 2012 Jan;16(1):10-4. doi: 10.1016/j.ejpn.2011.08.006. Epub 2011 Sep 25.
10
Absence of mutation in the SLC2A1 gene in a cohort of patients with alternating hemiplegia of childhood (AHC).一组儿童交替性偏瘫（AHC）患者中SLC2A1基因无突变。
Neuropediatrics. 2010 Dec;41(6):267-9. doi: 10.1055/s-0031-1271767. Epub 2011 Mar 28.
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