A novel R1347Q mutation in the predicted voltage sensor segment of the P/Q-type calcium-channel α1A-subunit in a family with progressive cerebellar ataxia and hemiplegic migraine-Reference-Cited by-同舟云学术

A novel R1347Q mutation in the predicted voltage sensor segment of the P/Q-type calcium-channel α1A-subunit in a family with progressive cerebellar ataxia and hemiplegic migraine

Published:2003-12-10 Issue:1 Volume:65 Page:70-72
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:

Author:

Alonso I,Barros J,Tuna A,Seixas A,Coutinho P,Sequeiros J,Silveira I

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference11 articles.

1. Familial hemiplegic migraine and episodic ataxia type 2 are caused by mutations in the Ca2+ channel gene CACNL1A4;Ophoff;Cell,1996

2. Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the α1A-voltage-dependent calcium channel;Zhuchenko;Nat Genet,1997

3. Episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6) due to CAG repeat expansion in the CACNA1A gene on chromosome 19p;Jodice;Hum Mol Genet,1997

4. Progressive ataxia due to a missense mutation in a calcium-channel gene;Yue;Am J Hum Genet,1997

5. Spinocerebellar ataxia type 6 with positional vertigo and acetezolamide responsive episodic ataxia;Jen;J Neurol Neurosurg Psychiatry,1998

Cited by 27 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Progressive Ataxia due to de novo Missense Variants in the CACNA1A Gene;The Cerebellum;2024-06-13

2. Zebrafish as a Model System for the Study of Severe CaV2.1 (α1A) Channelopathies;Frontiers in Molecular Neuroscience;2020-02-07

3. A novel missense mutation in CACNA1A evaluated by in silico protein modeling is associated with non-episodic spinocerebellar ataxia with slow progression;European Journal of Medical Genetics;2014-04

4. Calcium channels and synaptic transmission in familial hemiplegic migraine type 1 animal models;Biophysical Reviews;2013-12-03

5. Hereditary Ataxia and Spastic Paraplegia in Portugal;JAMA Neurology;2013-06-01