CACNA1A haploinsufficiency causes cognitive impairment, autism and epileptic encephalopathy with mild cerebellar symptoms

CACNA1A loss-of-function mutations classically present as episodic ataxia type 2 (EA2), with brief episodes of ataxia and nystagmus, or with progressive spinocerebellar ataxia (SCA6). A minority of patients carrying CACNA1A mutations develops epilepsy. Non-motor symptoms associated with these mutati...

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Foilsithe in:Eur J Hum Genet
Main Authors: Damaj, Lena, Lupien-Meilleur, Alexis, Lortie, Anne, Riou, Émilie, Ospina, Luis H, Gagnon, Louise, Vanasse, Catherine, Rossignol, Elsa
Formáid: Artigo
Teanga:Inglês
Foilsithe: Nature Publishing Group 2015
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Article
Rochtain Ar Líne:https://ncbi.nlm.nih.gov/pmc/articles/PMC4613477/
https://ncbi.nlm.nih.gov/pubmed/25735478
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2015.21
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