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Alternating hemiplegia of childhood: Clinical case and video description.

作者信息

Au Kelvin, Pringsheim Tamara

机构信息

Departments of Clinical Neurosciences (KA, TP) and Psychiatry, Pediatrics, and Community Health Sciences (TP), University of Calgary, Canada.

出版信息

Neurol Clin Pract. 2017 Oct;7(5):413-414. doi: 10.1212/CPJ.0000000000000343.

DOI:10.1212/CPJ.0000000000000343
PMID:29620090
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5874472/
Abstract
摘要

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De novo ATP1A2 variants in two Chinese children with alternating hemiplegia of childhood upgraded the gene-disease relationship and variant classification: a case report.新发现的 ATP1A2 变异在两名中国儿童发作性偏瘫中起作用,提升了基因-疾病关系和变异分类:病例报告。
BMC Med Genomics. 2021 Apr 1;14(1):95. doi: 10.1186/s12920-021-00947-6.

本文引用的文献

1
The expanding spectrum of neurological phenotypes in children with ATP1A3 mutations, Alternating Hemiplegia of Childhood, Rapid-onset Dystonia-Parkinsonism, CAPOS and beyond.ATP1A3 基因突变患儿神经表型谱不断扩大,包括儿童交替性偏瘫、快速进展性肌张力障碍 - 帕金森综合征、CAPOS 及其他。
Pediatr Neurol. 2015 Jan;52(1):56-64. doi: 10.1016/j.pediatrneurol.2014.09.015. Epub 2014 Oct 13.
2
Child neurology: alternating hemiplegia of childhood.儿童神经病学:儿童交替性偏瘫
Neurology. 2010 Apr 6;74(14):e57-9. doi: 10.1212/WNL.0b013e3181d7d85b.