Episodic ataxia type 2: phenotype characteristics of a novel CACNA1A mutation and review of the literature-Reference-Cited by-同舟云学术

Episodic ataxia type 2: phenotype characteristics of a novel CACNA1A mutation and review of the literature

Published:2014-03-22 Issue:5 Volume:261 Page:983-991
ISSN:0340-5354
Container-title:Journal of Neurology
language:en
Short-container-title:J Neurol

Author:

Nachbauer Wolfgang,Nocker Michael,Karner Elfriede,Stankovic Iva,Unterberger Iris,Eigentler Andreas,Schneider Rainer,Poewe Werner,Delazer Margarete,Boesch Sylvia

Publisher

Springer Science and Business Media LLC

Subject

Neurology (clinical),Neurology

Link

http://link.springer.com/content/pdf/10.1007/s00415-014-7310-2.pdf

Reference54 articles.

1. Westenbroek RE, Sakurai T, Elliott EM, Hell JW, Starr TV, Snutch TP, Catterall WA (1995) Immunochemical identification and subcellular distribution of the alpha 1A subunits of brain calcium channels. J Neurosci 15:6403–6418

2. Mori Y, Friedrich T, Kim MS, Mikami A, Nakai J, Ruth P, Bosse E, Hofmann F, Flockerzi V, Furuichi T et al (1991) Primary structure and functional expression from complementary DNA of a brain calcium channel. Nature 350:398–402

3. Mantuano E, Veneziano L, Jodice C, Frontali M (2003) Spinocerebellar ataxia type 6 and episodic ataxia type 2: differences and similarities between two allelic disorders. Cytogenet Genome Res 100:147–153

4. Jodice C, Mantuano E, Veneziano L, Trettel F, Sabbadini G, Calandriello L, Francia A, Spadaro M, Pierelli F, Salvi F, Ophoff RA, Frants RR, Frontali M (1997) Episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6) due to CAG repeat expansion in the CACNA1A gene on chromosome 19p. Hum Mol Genet 6:1973–1978

5. Romaniello R, Zucca C, Tonelli A, Bonato S, Baschirotto C, Zanotta N, Epifanio R, Righini A, Bresolin N, Bassi MT, Borgatti R (2010) A wide spectrum of clinical, neurophysiological and neuroradiological abnormalities in a family with a novel CACNA1A mutation. J Neurol Neurosurg Psychiatry 81:840–843

Cited by 49 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. Spinocerebellar ataxia 27B: A novel, frequent and potentially treatable ataxia;Clinical and Translational Medicine;2024-01

2. Familial hemiplegic migraine in pediatric patients: A genetic, clinical, and follow‐up study;Headache: The Journal of Head and Face Pain;2023-06-16

3. Deconstructing speech alterations in episodic ataxia type 2: Perceptual-acoustic analysis in a case due to CACNA1A gene mutation;Parkinsonism & Related Disorders;2023-03

4. Episodic Ataxias: Primary and Secondary Etiologies, Treatment, and Classification Approaches;Tremor and Other Hyperkinetic Movements;2023

5. Ataxia episódica tipo 2: estudio clínico, genético y radiológico de 10 pacientes;Revista de Neurología;2023