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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Gepubliceerd in:J Med Genet
Hoofdauteurs: 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
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: BMJ Publishing Group 2018
Onderwerpen:
Neurogenetics
Online toegang: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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