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本文引用的文献

1
ATP1A3 mutations and genotype-phenotype correlation of alternating hemiplegia of childhood in Chinese patients.ATP1A3 突变与中国儿童发作性偏瘫的基因型-表型相关性。
PLoS One. 2014 May 19;9(5):e97274. doi: 10.1371/journal.pone.0097274. eCollection 2014.
2
Distinct neurological disorders with ATP1A3 mutations.ATP1A3 突变相关的不同神经障碍。
Lancet Neurol. 2014 May;13(5):503-14. doi: 10.1016/S1474-4422(14)70011-0.
3
ATP1A3 mutations in infants: a new rapid-onset dystonia-Parkinsonism phenotype characterized by motor delay and ataxia.婴儿中的 ATP1A3 突变：一种新的快速发作性肌张力障碍-帕金森病表型，其特征为运动延迟和共济失调。
Dev Med Child Neurol. 2012 Nov;54(11):1065-7. doi: 10.1111/j.1469-8749.2012.04421.x. Epub 2012 Aug 28.
4
Rapid-onset dystonia-parkinsonism in a child with a novel atp1a3 gene mutation.一名患有新型ATP1A3基因突变儿童的快速发作性肌张力障碍-帕金森综合征
Neurology. 2009 Aug 4;73(5):400-1. doi: 10.1212/WNL.0b013e3181b04acd.
5
ATP1A3 mutation in the first asian case of rapid-onset dystonia-parkinsonism.首例亚洲快速起病型肌张力障碍-帕金森综合征患者的ATP1A3突变
Mov Disord. 2007 Sep 15;22(12):1808-9. doi: 10.1002/mds.21638.
6
The phenotypic spectrum of rapid-onset dystonia-parkinsonism (RDP) and mutations in the ATP1A3 gene.快速发作性肌张力障碍-帕金森综合征（RDP）的表型谱及ATP1A3基因突变
Brain. 2007 Mar;130(Pt 3):828-35. doi: 10.1093/brain/awl340. Epub 2007 Feb 4.

Rapid-Onset Dystonia-Parkinsonism in a Chinese Girl with a De Novo c.2267G>A (p.R756H) Genetic Mutation.

作者信息

Tan Ai Huey, Ozelius Laurie J, Brashear Allison, Lang Anthony E, Ahmad-Annuar Azlina, Tan Chong Tin, Lim Shen-Yang

机构信息

Division of Neurology and the Mah Pooi Soo & Tan Chin Nam Centre for Parkinson's & Related Disorders; and the Department of Biomedical Science Faculty of Medicine University of Malaya Kuala Lumpur Malaysia.

Departments of Genetics and Genomic Sciences and Neurology Mount Sinai School of Medicine New York New York USA.

出版信息

Mov Disord Clin Pract. 2014 Dec 30;2(1):74-75. doi: 10.1002/mdc3.12122. eCollection 2015 Mar.

DOI:10.1002/mdc3.12122
PMID:30713883
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6353356/
Abstract
摘要