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- Title
A wide spectrum of clinical, neurophysiological and neuroradiological abnormalities in a family with a novel CACNA1A mutation.
- Authors
Romaniello, Romina; Zucca, Claudio; Tonelli, Alessandra; Bonato, Sara; Baschirotto, Cinzia; Zanotta, Nicoletta; Epifanio, Roberta; Righini, Andrea; Bresolin, Nereo; Bassi, Maria T; Borgatti, Renato
- Abstract
Mutations in the calcium channel voltage dependent P/Q-type alpha-1A subunit (CACNA1A) can cause different neurological disorders which share a wide range of symptoms, including episodic ataxia type 2 (EA2), familial hemiplegic migraine (FHM1) and progressive spinocerebellar ataxia (SCA6).
- Publication
Journal of neurology, neurosurgery, and psychiatry, 2010, Vol 81, Issue 8, p840
- ISSN
1468-330X
- Publication type
Journal Article
- DOI
10.1136/jnnp.2008.163402