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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發表在: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
格式: Artigo
語言:Inglês
出版: BMJ Publishing Group 2018
主題:
Neurogenetics
在線閱讀: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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