Article
Identification of new risk factors for rolandic epilepsy: CNV at Xp22.31 and alterations at cholinergic synapses.
Journal of medical genetics - 1 Sept 2018
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
Abstract excerpt
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 accounting for >5% of cases. OBJECTIVE: To identify rare, causal CNV in patients with RE. METHODS: We used high-density...
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