Repeat interruptions in spinocerebellar ataxia type 10 expansions are strongly associated with epileptic seizures

Spinocerebellar ataxia type 10 (SCA10), an autosomal dominant neurodegenerative disorder, is the result of a non-coding, pentanucleotide repeat expansion within intron 9 of the Ataxin 10 gene. SCA10 patients present with pure cerebellar ataxia; yet, some families also have a high incidence of epilep...

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Detalhes bibliográficos
Main Authors: McFarland, Karen N., Liu, Jilin, Landrian, Ivette, Zeng, Desmond, Raskin, Salmo, Moscovich, Mariana, Gatto, Emilia M., Ochoa, Adriana, Teive, Hélio A. G., Rasmussen, Astrid, Ashizawa, Tetsuo
Formato: Artigo
Idioma:Inglês
Publicado em: 2013
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4038098/
https://ncbi.nlm.nih.gov/pubmed/24318420
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10048-013-0385-6
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