Identification of new risk factors for rolandic epilepsy: CNV at Xp22.31 and alterations at cholinergic synapses

BACKGROUND: Rolandic epilepsy (RE) is the most common genetic childhood epilepsy, consisting of focal, nocturnal seizures and frequent neurodevelopmental impairments in speech, language, literacy and attention. A complex genetic aetiology is presumed in most, with monogenic mutations in GRIN2A accou...

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Detalhes bibliográficos
Publicado no:J Med Genet
Main Authors: Addis, Laura, Sproviero, William, Thomas, Sanjeev V, Caraballo, Roberto H, Newhouse, Stephen J, Gomez, Kumudini, Hughes, Elaine, Kinali, Maria, McCormick, David, Hannan, Siobhan, Cossu, Silvia, Taylor, Jacqueline, Akman, Cigdem I, Wolf, Steven M, Mandelbaum, David E, Gupta, Rajesh, van der Spek, Rick A, Pruna, Dario, Pal, Deb K
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Publishing Group 2018
Assuntos:
Neurogenetics
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6119347/
https://ncbi.nlm.nih.gov/pubmed/29789371
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmedgenet-2018-105319
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