Clinical manifestations of episodic ataxia type 5.
作者信息
González Sánchez Miguel, Izquierdo Silvia, Álvarez Sara, Bautista Alonso Rosa Eva, Berciano José, Gazulla José
机构信息
Department of Neurology (MGS, JG), Hospital Universitario Miguel Servet; Department of Clinical Biochemistry (SI), Hospital Universitario Miguel Servet, Section of Genetics, Zaragoza; NIMGenetics (SA), Madrid; Department of Internal Medicine (REBA), Hospital Universitario Miguel Servet, Zaragoza; Department of Neurology (JB), Hospital Universitario Marqués de Valdecilla, Santander, Spain.
出版信息
Neurol Clin Pract. 2019 Dec;9(6):503-504. doi: 10.1212/CPJ.0000000000000697.
Abstract
摘要
相似文献
1
Clinical manifestations of episodic ataxia type 5.
Neurol Clin Pract. 2019 Dec;9(6):503-504. doi: 10.1212/CPJ.0000000000000697.
2
Episodic ataxia/myokymia mutations functionally expressed in the Shaker potassium channel.
Neuroscience. 1999;91(4):1557-64. doi: 10.1016/s0306-4522(98)00718-0.
3
Phenotypic variability of episodic ataxia type 2 mutations: a family study.
Eur Neurol. 2010;64(2):114-6. doi: 10.1159/000315145. Epub 2010 Jul 15.
4
A sleep modulated Channelopathy: a novel CACNA1A pathogenic variant identified in episodic Ataxia type 2 and a potential link to sleep alleviated migraine.
BMC Neurol. 2019 Oct 22;19(1):246. doi: 10.1186/s12883-019-1491-3.
5
Episodic ataxia type 2: an uncommon inherited CNS channelopathies.
J Med Assoc Thai. 2003 Apr;86(4):376-80.
6
[Hereditary episodic ataxia].
Rev Neurol (Paris). 2011 May;167(5):401-7. doi: 10.1016/j.neurol.2010.10.016. Epub 2011 Apr 13.
7
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.
8
A three-year-old boy with glucose transporter type 1 deficiency syndrome presenting with episodic ataxia.
Pediatr Neurol. 2014 Jan;50(1):99-100. doi: 10.1016/j.pediatrneurol.2013.09.002. Epub 2013 Nov 5.
9
Dominant-negative mutation p.Arg324Thr in KCNA1 impairs Kv1.1 channel function in episodic ataxia.
Mov Disord. 2016 Nov;31(11):1743-1748. doi: 10.1002/mds.26737. Epub 2016 Aug 1.
10
Episodic ataxia associated with a de novo SCN2A mutation.
Eur J Paediatr Neurol. 2016 Sep;20(5):772-6. doi: 10.1016/j.ejpn.2016.05.020. Epub 2016 Jun 14.
引用本文的文献
1
Towards Zebrafish Models of CNS Channelopathies.
Int J Mol Sci. 2022 Nov 12;23(22):13979. doi: 10.3390/ijms232213979.
2
Therapeutic Potential of Sodium Channel Blockers as a Targeted Therapy Approach in -Associated Episodic Ataxia and a Comprehensive Review of the Literature.
Front Neurol. 2021 Sep 9;12:703970. doi: 10.3389/fneur.2021.703970. eCollection 2021.
3
Involvement of the Peripheral Nervous System in Episodic Ataxias.
Biomedicines. 2020 Oct 22;8(11):448. doi: 10.3390/biomedicines8110448.
4
Clinical and Genetic Overview of Paroxysmal Movement Disorders and Episodic Ataxias.
Int J Mol Sci. 2020 May 20;21(10):3603. doi: 10.3390/ijms21103603.
本文引用的文献
1
Episodic Ataxias: Clinical and Genetic Features.
J Mov Disord. 2016 Sep;9(3):129-35. doi: 10.14802/jmd.16028. Epub 2016 Sep 21.
2
[Hereditary episodic ataxia].
Rev Neurol (Paris). 2011 May;167(5):401-7. doi: 10.1016/j.neurol.2010.10.016. Epub 2011 Apr 13.
3
Coding and noncoding variation of the human calcium-channel beta4-subunit gene CACNB4 in patients with idiopathic generalized epilepsy and episodic ataxia.
Am J Hum Genet. 2000 May;66(5):1531-9. doi: 10.1086/302909. Epub 2000 Apr 4.
4
Ataxia induced by small amounts of alcohol.
J Neurol Neurosurg Psychiatry. 1998 Sep;65(3):370-3. doi: 10.1136/jnnp.65.3.370.
Zotero 插件