相似文献
1
Episodic Ataxia Type 2 due to a Deletion Mutation in the CACNA1A Gene in a Korean Family.
J Clin Neurol. 2006 Dec;2(4):268-71. doi: 10.3988/jcn.2006.2.4.268. Epub 2006 Dec 20.
2
CACNA1A mutation in a EA-2 patient responsive to acetazolamide and valproic acid.
Can J Neurol Sci. 2006 Feb;33(1):68-72. doi: 10.1017/s0317167100004728.
3
Epilepsy and episodic ataxia type 2: family study and review of the literature.
J Neurol. 2021 Nov;268(11):4296-4302. doi: 10.1007/s00415-021-10555-0. Epub 2021 May 13.
4
Large CACNA1A deletion in a family with episodic ataxia type 2.
Arch Neurol. 2008 Jun;65(6):817-20. doi: 10.1001/archneur.65.6.817.
5
Mutation Spectrum in the CACNA1A Gene in 49 Patients with Episodic Ataxia.
Sci Rep. 2017 May 31;7(1):2514. doi: 10.1038/s41598-017-02554-x.
6
Large Genomic Deletions in CACNA1A Cause Episodic Ataxia Type 2.
Front Neurol. 2011 Sep 9;2:51. doi: 10.3389/fneur.2011.00051. eCollection 2011.
7
A novel mutation in gene in a Saudi female with episodic ataxia type 2 with no response to acetazolamide or 4-aminopyridine.
Intractable Rare Dis Res. 2019 Feb;8(1):67-71. doi: 10.5582/irdr.2018.01133.
8
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.
9
[Hereditary episodic ataxia].
Rev Neurol (Paris). 2011 May;167(5):401-7. doi: 10.1016/j.neurol.2010.10.016. Epub 2011 Apr 13.
10
Clinical features and gene mutation in a family with episodic ataxia type 2.
Zhong Nan Da Xue Xue Bao Yi Xue Ban. 2022 Jun 28;47(6):801-808. doi: 10.11817/j.issn.1672-7347.2022.210650.
引用本文的文献
1
Intellectual Disability in Episodic Ataxia Type 2: Beyond Paroxysmal Vertigo and Ataxia.
J Clin Neurol. 2024 Nov;20(6):563-570. doi: 10.3988/jcn.2024.0274.
2
Biallelic CACNA1A variants: Review of literature and report of a child with drug-resistant epilepsy and developmental delay.
Am J Med Genet A. 2022 Nov;188(11):3306-3311. doi: 10.1002/ajmg.a.62960. Epub 2022 Sep 5.
3
Clinical features and gene mutation in a family with episodic ataxia type 2.
Zhong Nan Da Xue Xue Bao Yi Xue Ban. 2022 Jun 28;47(6):801-808. doi: 10.11817/j.issn.1672-7347.2022.210650.
4
Genetic Variants Associated with Episodic Ataxia in Korea.
Sci Rep. 2017 Oct 23;7(1):13855. doi: 10.1038/s41598-017-14254-7.
5
Mutation Spectrum in the CACNA1A Gene in 49 Patients with Episodic Ataxia.
Sci Rep. 2017 May 31;7(1):2514. doi: 10.1038/s41598-017-02554-x.
6
Episodic Ataxias: Clinical and Genetic Features.
J Mov Disord. 2016 Sep;9(3):129-35. doi: 10.14802/jmd.16028. Epub 2016 Sep 21.
7
Exercise-induced downbeat nystagmus in a Korean family with a nonsense mutation in CACNA1A.
Neurol Sci. 2015 Aug;36(8):1393-6. doi: 10.1007/s10072-015-2157-6. Epub 2015 Mar 18.
8
Downward vertical gaze palsy as a prominent manifestation of episodic ataxia type 2: a case report.
Iran J Child Neurol. 2013 Fall;7(4):58-60.
9
Episodic ataxia type 2: phenotype characteristics of a novel CACNA1A mutation and review of the literature.
J Neurol. 2014 May;261(5):983-91. doi: 10.1007/s00415-014-7310-2.
10
Possible anticipation associated with a novel splice site mutation in episodic ataxia type 2.
Neurol Sci. 2013 Sep;34(9):1629-32. doi: 10.1007/s10072-013-1298-8. Epub 2013 Jan 24.
本文引用的文献
1
Temperature-dependent auditory neuropathy: is it an acoustic Uhthoff-like phenomenon? A case report.
Ann Otol Rhinol Laryngol. 2006 Jul;115(7):518-27. doi: 10.1177/000348940611500706.
2
Quantification of Uhthoff's phenomenon in multiple sclerosis: a magnetic stimulation study.
Clin Neurophysiol. 2004 Nov;115(11):2493-501. doi: 10.1016/j.clinph.2004.06.010.
3
Clinical spectrum of episodic ataxia type 2.
Neurology. 2004 Jan 13;62(1):17-22. doi: 10.1212/01.wnl.0000101675.61074.50.
4
Spinocerebellar ataxia type 6 and episodic ataxia type 2 in a Korean family.
J Korean Med Sci. 2001 Dec;16(6):809-13. doi: 10.3346/jkms.2001.16.6.809.
5
High prevalence of CACNA1A truncations and broader clinical spectrum in episodic ataxia type 2.
Neurology. 1999 Jun 10;52(9):1816-21. doi: 10.1212/wnl.52.9.1816.
6
Acetazolamide-responsive hereditary paroxysmal ataxia: report of a family.
J Korean Med Sci. 1998 Apr;13(2):196-200. doi: 10.3346/jkms.1998.13.2.196.
7
Absence epilepsy in tottering mutant mice is associated with calcium channel defects.
Cell. 1996 Nov 15;87(4):607-17. doi: 10.1016/s0092-8674(00)81381-1.
8
Clinical features and classification of inherited ataxias.
Adv Neurol. 1993;61:1-14.
9
Episodic ataxia/myokymia syndrome is associated with point mutations in the human potassium channel gene, KCNA1.
Nat Genet. 1994 Oct;8(2):136-40. doi: 10.1038/ng1094-136.
10
Primary structure and functional expression from complementary DNA of a brain calcium channel.
Nature. 1991 Apr 4;350(6317):398-402. doi: 10.1038/350398a0.
Zotero 插件
