Mutation Spectrum in the CACNA1A Gene in 49 Patients with Episodic Ataxia-Reference-Cited by-同舟云学术

Mutation Spectrum in the CACNA1A Gene in 49 Patients with Episodic Ataxia

Published:2017-05-31 Issue:1 Volume:7 Page:
ISSN:2045-2322
Container-title:Scientific Reports
language:en
Short-container-title:Sci Rep

Author:

Sintas Cèlia,Carreño Oriel,Fernàndez-Castillo Noèlia,Corominas Roser,Vila-Pueyo Marta,Toma Claudio^ORCID,Cuenca-León Ester,Barroeta Isabel,Roig Carles,Volpini Víctor,Macaya Alfons,Cormand Bru^ORCID

Publisher

Springer Science and Business Media LLC

Subject

Multidisciplinary

Link

http://www.nature.com/articles/s41598-017-02554-x.pdf

Reference46 articles.

1. Rajakulendran, S. et al. Genetic and functional characterisation of the P/Q calcium channel in episodic ataxia with epilepsy. Journal of Physiology 588, 1905–1913, doi: 10.1113/jphysiol.2009.186437 (2010).

2. Spacey, S. D., Materek, L. A., Szczygielski, B. I. & Bird, T. D. Two novel CACNA1A gene mutations associated with episodic ataxia type 2 and interictal dystonia. Archives of Neurology 62, 314–316, doi: 10.1001/archneur.62.2.314 (2005).

3. Rajakulendran, S., Kaski, D. & Hanna, M. G. Neuronal P/Q-type calcium channel dysfunction in inherited disorders of the CNS. Nature reviews in neurology 8, 86–96, doi: 10.1038/nrneurol.2011.228 (2012).

4. Cuenca-Leon, E. et al. Late-onset episodic ataxia type 2 associated with a novel loss-of-function mutation in the CACNA1A gene. Journal of the neurological sciences 280, 10–14, doi: 10.1016/j.jns.2009.01.005 (2009).

5. Spacey, S. In GeneReviews(R) (eds Pagon, R. A. et al.) (1993).

Cited by 38 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. A Review of the CACNA Gene Family: Its Role in Neurological Disorders;Diseases;2024-05-05

2. A de novo mutation in CACNA1A is associated with autosomal dominant bovine familial convulsions and ataxia in Angus cattle;Animal Genetics;2024-03

3. Integration of multi-omics technologies for molecular diagnosis in ataxia patients;Frontiers in Genetics;2024-01-04

4. Familial hemiplegic migraine;Handbook of Clinical Neurology;2024

5. Emicrania emiplegica familiare;EMC - Neurologia;2023-08