儿童交替性偏侧肌张力障碍：用苯海索治疗的ATP1A3的独特表现。 - Suppr

Alternating hemidystonia of childhood: a unique presentation of ATP1A3 treated with trihexyphenidyl.

作者信息

Bundy Jonathan, Zhao Hongfei, Kianirad Yasaman

机构信息

Department of Neurology and Rehabilitation, University of Illinois at Chicago, 912 S Wood St, RM 174, Chicago, IL, 60612, USA.

出版信息

J Neurol. 2024 Aug;271(8):5656-5658. doi: 10.1007/s00415-024-12487-x. Epub 2024 Jun 5.

DOI:10.1007/s00415-024-12487-x

PMID:38839636

Abstract

摘要

相似文献

Alternating hemidystonia of childhood: a unique presentation of ATP1A3 treated with trihexyphenidyl.

J Neurol. 2024 Aug;271(8):5656-5658. doi: 10.1007/s00415-024-12487-x. Epub 2024 Jun 5.

Identical ATP1A3 mutation causes alternating hemiplegia of childhood and rapid-onset dystonia parkinsonism phenotypes.

Pediatr Neurol. 2014 Dec;51(6):850-3. doi: 10.1016/j.pediatrneurol.2014.08.015. Epub 2014 Aug 29.

Hemidystonia with polymicrogyria is part of ATP1A3-related disorders.

Brain Dev. 2022 Sep;44(8):567-570. doi: 10.1016/j.braindev.2022.05.001. Epub 2022 May 24.

A novel ATP1A3 mutation with unique clinical presentation.

J Neurol Sci. 2014 Jun 15;341(1-2):133-5. doi: 10.1016/j.jns.2014.03.034. Epub 2014 Mar 25.

[Alternating hemiplegia of childhood: ATP1A3 gene analysis in 16 patients].

Med Clin (Barc). 2014 Jul 7;143(1):25-8. doi: 10.1016/j.medcli.2014.01.036. Epub 2014 Apr 24.

Mutational and phenotypic expansion of ATP1A3-related disorders: Report of nine cases.

Gene. 2020 Jul 30;749:144709. doi: 10.1016/j.gene.2020.144709. Epub 2020 Apr 25.

The expanding spectrum of neurological phenotypes in children with ATP1A3 mutations, Alternating Hemiplegia of Childhood, Rapid-onset Dystonia-Parkinsonism, CAPOS and beyond.

Pediatr Neurol. 2015 Jan;52(1):56-64. doi: 10.1016/j.pediatrneurol.2014.09.015. Epub 2014 Oct 13.

[Alternating hemiplegia].

Zh Nevrol Psikhiatr Im S S Korsakova. 2020;120(3):72-76. doi: 10.17116/jnevro202012003172.

Childhood-onset ATP1A3-related conditions: Report of two new cases of phenotypic spectrum.

Parkinsonism Relat Disord. 2016 Sep;30:81-2. doi: 10.1016/j.parkreldis.2016.05.029. Epub 2016 Jun 1.

Comparative analysis of alternating hemiplegia of childhood and rapid-onset dystonia-parkinsonism ATP1A3 mutations reveals functional deficits, which do not correlate with disease severity.

Neurobiol Dis. 2020 Sep;143:105012. doi: 10.1016/j.nbd.2020.105012. Epub 2020 Jul 10.

本文引用的文献

Dopa-responsive dystonia and paroxysmal dystonic attacks associated with gene variant.

Pract Neurol. 2024 Jul 16;24(4):326-328. doi: 10.1136/pn-2023-004045.

Comparative analysis of alternating hemiplegia of childhood and rapid-onset dystonia-parkinsonism ATP1A3 mutations reveals functional deficits, which do not correlate with disease severity.

Neurobiol Dis. 2020 Sep;143:105012. doi: 10.1016/j.nbd.2020.105012. Epub 2020 Jul 10.

Alternating Hemiplegia of Childhood: Understanding the Genotype-Phenotype Relationship of ATP1A3 Variations.

Appl Clin Genet. 2020 Mar 30;13:71-81. doi: 10.2147/TACG.S210325. eCollection 2020.

A functional correlate of severity in alternating hemiplegia of childhood.

Neurobiol Dis. 2015 May;77:88-93. doi: 10.1016/j.nbd.2015.02.002. Epub 2015 Feb 12.

Alternating Hemiplegia of Childhood mutations have a differential effect on Na(+),K(+)-ATPase activity and ouabain binding.

Biochim Biophys Acta. 2014 Jul;1842(7):1010-6. doi: 10.1016/j.bbadis.2014.03.002. Epub 2014 Mar 12.

De novo mutations in ATP1A3 cause alternating hemiplegia of childhood.

Nat Genet. 2012 Sep;44(9):1030-4. doi: 10.1038/ng.2358. Epub 2012 Jul 29.

Alternating hemiplegia in childhood: a report of eight patients with complicated migraine beginning in infancy.

Pediatrics. 1971 Apr;47(4):675-80.

Immunofluorescent localization of three Na,K-ATPase isozymes in the rat central nervous system: both neurons and glia can express more than one Na,K-ATPase.

J Neurosci. 1991 Feb;11(2):381-91. doi: 10.1523/JNEUROSCI.11-02-00381.1991.

文献AI研究员

20分钟写一篇综述，助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型，支持多种主流文档格式。

立即体验

Alternating hemidystonia of childhood: a unique presentation of ATP1A3 treated with trihexyphenidyl.

作者信息

机构信息

出版信息

相似文献

本文引用的文献

文献AI研究员

用中文搜PubMed

文档翻译

Suppr 超能文献

相似文献

本文引用的文献