Article
Identification of novel and recurrent CACNA1A gene mutations in fifteen patients with episodic ataxia type 2.
Journal of the neurological sciences - 15 Apr 2010
Mantuano Elide, Romano Silvia, Veneziano Liana, Gellera Cinzia, Castellotti Barbara, Caimi Sara, Testa Daniela, Estienne Margherita, Zorzi Giovanna, Bugiani Marianna, Rajabally Yusuf A, Barcina Maria J Garcìa, Servidei Serena, Panico Aurora, Frontali Marina, Mariotti Caterina
Abstract excerpt
Episodic ataxia type 2 is a rare autosomal dominant disease characterized by recurrent attacks of vertigo and cerebellar ataxia. The disease was caused by mutations in the CACNA1A gene, on chromosome 19p. We perform a mutational screening in a group of 43 unrelated patients. Forty-two patients presented episodes of disequilibrium and ataxia, and one child was studied because of the occurrence of episodic...
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