相似文献
1
A Novel CACNA1A Nonsense Variant [c.4054C>T (p.Arg1352)] Causing Episodic Ataxia Type 2.
Case Rep Neurol Med. 2018 Mar 11;2018:5802650. doi: 10.1155/2018/5802650. eCollection 2018.
2
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.
3
Next-generation sequencing identifies novel CACNA1A gene mutations in episodic ataxia type 2.
Mol Genet Genomic Med. 2016 Jan 20;4(2):211-22. doi: 10.1002/mgg3.196. eCollection 2016 Mar.
4
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.
5
Novel frameshift mutation in the CACNA1A gene causing a mixed phenotype of episodic ataxia and familiar hemiplegic migraine.
Eur J Paediatr Neurol. 2015 Jan;19(1):72-4. doi: 10.1016/j.ejpn.2014.10.005. Epub 2014 Nov 3.
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.
8
Episodic ataxia type 2 (EA2) with interictal myokymia and focal dystonia.
Cold Spring Harb Mol Case Stud. 2022 Oct 28;8(6). doi: 10.1101/mcs.a006236. Print 2022 Oct.
9
CACNA1A nonsense mutation is associated with basilar-type migraine and episodic ataxia type 2.
Headache. 2009 Jul;49(7):1042-6. doi: 10.1111/j.1526-4610.2009.01464.x. Epub 2009 May 27.
10
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.
本文引用的文献
1
The Clinical Spectrum of Autosomal-Dominant Episodic Ataxias.
Mov Disord Clin Pract. 2014 Jul 28;1(4):285-290. doi: 10.1002/mdc3.12075. eCollection 2014 Dec.
2
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.
3
Novel missense variant of CACNA1A gene in a Slovak family with episodic ataxia type 2.
Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub. 2017 Mar;161(1):107-110. doi: 10.5507/bp.2016.066. Epub 2017 Jan 13.
4
Episodic ataxia and SCA6 within the same family due to the D302N CACNA1A gene mutation.
J Neurol Sci. 2016 Dec 15;371:81-84. doi: 10.1016/j.jns.2016.10.029. Epub 2016 Oct 19.
5
Biallelic CACNA1A mutations cause early onset epileptic encephalopathy with progressive cerebral, cerebellar, and optic nerve atrophy.
Am J Med Genet A. 2016 Aug;170(8):2173-6. doi: 10.1002/ajmg.a.37678. Epub 2016 Jun 2.
6
Next-generation sequencing identifies novel CACNA1A gene mutations in episodic ataxia type 2.
Mol Genet Genomic Med. 2016 Jan 20;4(2):211-22. doi: 10.1002/mgg3.196. eCollection 2016 Mar.
7
A novel missense mutation in CACNA1A evaluated by in silico protein modeling is associated with non-episodic spinocerebellar ataxia with slow progression.
Eur J Med Genet. 2014 Apr;57(5):207-11. doi: 10.1016/j.ejmg.2014.01.005. Epub 2014 Jan 29.
8
LOVD v.2.0: the next generation in gene variant databases.
Hum Mutat. 2011 May;32(5):557-63. doi: 10.1002/humu.21438. Epub 2011 Feb 22.
9
Primary episodic ataxias: diagnosis, pathogenesis and treatment.
Brain. 2007 Oct;130(Pt 10):2484-93. doi: 10.1093/brain/awm126. Epub 2007 Jun 15.
10
Clinical spectrum of episodic ataxia type 2.
Neurology. 2004 Jan 13;62(1):17-22. doi: 10.1212/01.wnl.0000101675.61074.50.
Zotero 插件