左乙拉西坦对由CACNA1A突变引起的发作性共济失调2型患者的疗效：三例病例报告 - Suppr

Efficacy of levetiracetam in patients with episodic ataxia type 2 caused by CACNA1A mutation: three case reports.

作者信息

Na Seunghee, Kim Taewon

机构信息

Department of Neurology, Incheon St. Mary's Hospital, The Catholic University of Korea, Seoul, Korea.

出版信息

Neurol Sci. 2021 Sep;42(9):3897-3899. doi: 10.1007/s10072-021-05368-y. Epub 2021 Jun 3.

DOI:10.1007/s10072-021-05368-y

PMID:34085110

Abstract

摘要

相似文献

Efficacy of levetiracetam in patients with episodic ataxia type 2 caused by CACNA1A mutation: three case reports.

Neurol Sci. 2021 Sep;42(9):3897-3899. doi: 10.1007/s10072-021-05368-y. Epub 2021 Jun 3.

Novel CACNA1A mutation(s) associated with slow saccade velocities.

J Neurol. 2013 Dec;260(12):3010-4. doi: 10.1007/s00415-013-7099-4. Epub 2013 Sep 18.

A Novel Frameshift CACNA1A Mutation Causing Episodic Ataxia Type 2.

Cerebellum. 2018 Aug;17(4):504-506. doi: 10.1007/s12311-018-0931-8.

Deconstructing speech alterations in episodic ataxia type 2: Perceptual-acoustic analysis in a case due to CACNA1A gene mutation.

Parkinsonism Relat Disord. 2023 Mar;108:105311. doi: 10.1016/j.parkreldis.2023.105311. Epub 2023 Feb 13.

New mutation of CACNA1A gene in episodic ataxia type 2.

Pediatr Int. 2011 Jun;53(3):415-6. doi: 10.1111/j.1442-200X.2011.03390.x.

Novel missense variant of CACNA1A gene: A case report of a family with episodic ataxia type 2.

J Neurol Sci. 2017 May 15;376:119-120. doi: 10.1016/j.jns.2017.03.008. Epub 2017 Mar 11.

Two distinct phenotypes, hemiplegic migraine and episodic Ataxia type 2, caused by a novel common CACNA1A variant.

BMC Neurol. 2020 Apr 26;20(1):155. doi: 10.1186/s12883-020-01704-5.

Slowed abduction during smooth pursuit eye movement in episodic ataxia type 2 with a novel CACNA1A mutation.

J Neurol Sci. 2017 Oct 15;381:4-6. doi: 10.1016/j.jns.2017.07.040. Epub 2017 Jul 27.

A novel CACNA1A mutation associated with episodic ataxia 2 presenting with periodic paralysis.

Acta Neurol Belg. 2018 Mar;118(1):137-139. doi: 10.1007/s13760-018-0895-y. Epub 2018 Feb 13.

Episodic ataxia type 2 characterised by recurrent dizziness/vertigo: a report of four cases.

Int J Neurosci. 2019 Feb;129(2):103-109. doi: 10.1080/00207454.2018.1486829. Epub 2018 Nov 5.

引用本文的文献

Effects of Levetiracetam on Episodic Ataxia Type 2 and Spinocerebellar Ataxia Type 6 with Episodic Ataxic Symptoms: A Case Series.

Genes (Basel). 2025 Mar 13;16(3):335. doi: 10.3390/genes16030335.

Episodic Ataxias: Primary and Secondary Etiologies, Treatment, and Classification Approaches.

Tremor Other Hyperkinet Mov (N Y). 2023 Mar 28;13:9. doi: 10.5334/tohm.747. eCollection 2023.

The efficacy of combining topiramate and 4-aminopyridine to reduce relapses and interictal progression in two cases of episodic ataxia type 2.

Neurol Sci. 2022 Aug;43(8):5099-5101. doi: 10.1007/s10072-022-06144-2. Epub 2022 May 20.

本文引用的文献

Usefulness of comprehensive targeted multigene panel sequencing for neuromuscular disorders in Korean patients.

Mol Genet Genomic Med. 2019 Oct;7(10):e00947. doi: 10.1002/mgg3.947. Epub 2019 Sep 1.

Effectiveness of levetiracetam in an acetazolamide-unresponsive patient with episodic ataxia type 2 by a novel CACNA1A nonsense mutation.

Eur J Neurol. 2017 Jul;24(7):e43-e44. doi: 10.1111/ene.13327.

[Episodic ataxia type 2 manifests as epileptiform electroencephalographic activity with no epileptic attacks in two family members].

Rinsho Shinkeigaku. 2016 Apr 28;56(4):260-4. doi: 10.5692/clinicalneurol.cn-000854. Epub 2016 Mar 30.

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

Clinical and imaging correlates of EEG patterns in hospitalized patients with encephalopathy.

J Neurol. 2013 Apr;260(4):1087-98. doi: 10.1007/s00415-012-6766-1. Epub 2012 Nov 30.

A randomized trial of 4-aminopyridine in EA2 and related familial episodic ataxias.

Neurology. 2011 Jul 19;77(3):269-75. doi: 10.1212/WNL.0b013e318225ab07. Epub 2011 Jul 6.

Is levetiracetam different from other antiepileptic drugs? Levetiracetam and its cellular mechanism of action in epilepsy revisited.

Ther Adv Neurol Disord. 2008 Jul;1(1):13-24. doi: 10.1177/1756285608094212.

Genetic and functional characterisation of the P/Q calcium channel in episodic ataxia with epilepsy.

J Physiol. 2010 Jun 1;588(Pt 11):1905-13. doi: 10.1113/jphysiol.2009.186437. Epub 2010 Feb 15.

Identification of novel and recurrent CACNA1A gene mutations in fifteen patients with episodic ataxia type 2.

J Neurol Sci. 2010 Apr 15;291(1-2):30-6. doi: 10.1016/j.jns.2010.01.010. Epub 2010 Feb 2.

Episodic ataxia type 2.

Neurotherapeutics. 2007 Apr;4(2):267-73. doi: 10.1016/j.nurt.2007.01.014.

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

Efficacy of levetiracetam in patients with episodic ataxia type 2 caused by CACNA1A mutation: three case reports.

作者信息

机构信息

出版信息

相似文献

引用本文的文献

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

Efficacy of levetiracetam in patients with episodic ataxia type 2 caused by CACNA1A mutation: three case reports.

作者信息

机构信息

出版信息

相似文献

引用本文的文献

本文引用的文献