Identification of new risk factors for rolandic epilepsy: CNV at Xp22.31 and alterations at cholinergic synapses.
Laura AddisWilliam SprovieroSanjeev V ThomasRoberto H CaraballoStephen J NewhouseKumudini GomezElaine HughesMaria KinaliDavid McCormickSiobhan HannanSilvia CossuJacqueline TaylorCigdem I AkmanSteven M WolfDavid E MandelbaumRajesh GuptaRick A van der SpekDario PrunaDeb K PalPublished in: Journal of medical genetics (2018)
Our results provide a CNV profile of an ethnically diverse cohort of patients with RE, uncovering new areas of research focus, and emphasise the importance of studying non-western European populations in oligogenic disorders to uncover a full picture of risk variation.