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The Endless Expansion of the Phenotypic Spectrum of Mutations: A True Diagnostic Challenge.

作者信息

Mencacci Niccolò E

机构信息

Department of Molecular Neuroscience University College London Institute of Neurology London United Kingdom.

出版信息

Mov Disord Clin Pract. 2016 May 9;3(4):395-397. doi: 10.1002/mdc3.12358. eCollection 2016 Jul-Aug.

DOI:10.1002/mdc3.12358
PMID:30363572
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6178772/
Abstract
摘要

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本文引用的文献

1
A Distinct Phenotype in a Novel ATP1A3 Mutation: Connecting the Two Ends of a Spectrum.一种新型ATP1A3突变中的独特表型：连接谱系的两端
Mov Disord Clin Pract. 2015 Nov 28;3(4):398-401. doi: 10.1002/mdc3.12263. eCollection 2016 Jul-Aug.
2
Beyond Dystonia-Parkinsonism: Chorea and Ataxia with ATP1A3 Mutations.超越肌张力障碍-帕金森综合征：伴有ATP1A3突变的舞蹈症和共济失调
Mov Disord Clin Pract. 2016 Jan 29;3(4):402-404. doi: 10.1002/mdc3.12317. eCollection 2016 Jul-Aug.
3
Intermediate Phenotypes of ATP1A3 Mutations: Phenotype-Genotype Correlations.ATP1A3突变的中间表型：表型-基因型相关性
Tremor Other Hyperkinet Mov (N Y). 2015 Sep 16;5:336. doi: 10.7916/D8MG7NS8. eCollection 2015.
4
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.
5
Relapsing encephalopathy with cerebellar ataxia related to an ATP1A3 mutation.与ATP1A3突变相关的复发性脑病伴小脑共济失调
Dev Med Child Neurol. 2015 Dec;57(12):1183-6. doi: 10.1111/dmcn.12927. Epub 2015 Sep 23.
6
Faulty cardiac repolarization reserve in alternating hemiplegia of childhood broadens the phenotype.儿童交替性偏瘫中存在的心脏复极储备功能异常拓宽了其表型。
Brain. 2015 Oct;138(Pt 10):2859-74. doi: 10.1093/brain/awv243. Epub 2015 Aug 21.
7
Novel mutations in ATP1A3 associated with catastrophic early life epilepsy, episodic prolonged apnea, and postnatal microcephaly.ATP1A3基因的新突变与灾难性的早期癫痫、发作性长时间呼吸暂停和出生后小头畸形有关。
Epilepsia. 2015 Mar;56(3):422-30. doi: 10.1111/epi.12914. Epub 2015 Feb 5.
8
Phenotypic overlap of alternating hemiplegia of childhood and CAPOS syndrome.儿童交替性偏瘫与CAPOS综合征的表型重叠。
Neurology. 2014 Aug 26;83(9):861-3. doi: 10.1212/WNL.0000000000000735. Epub 2014 Jul 23.
9
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.
10
A novel ATP1A3 mutation with unique clinical presentation.一种具有独特临床表现的新型ATP1A3突变。
J Neurol Sci. 2014 Jun 15;341(1-2):133-5. doi: 10.1016/j.jns.2014.03.034. Epub 2014 Mar 25.