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Rare GABRA3 variants are associated with epileptic seizures, encephalopathy and dysmorphic features.
Niturad CE, Lev D, Kalscheuer VM, Charzewska A, Schubert J, Lerman-Sagie T, Kroes HY, Oegema R, Traverso M, Specchio N, Lassota M, Chelly J, Bennett-Back O, Carmi N, Koffler-Brill T, Iacomino M, Trivisano M, Capovilla G, Striano P, Nawara M, Rzonca S, Fischer U, Bienek M, Jensen C, Hu H, Thiele H, Altmüller J, Krause R, May P, Becker F; EuroEPINOMICS Consortium; Balling R, Biskup S, Haas SA, Nürnberg P, van Gassen KLI, Lerche H, Zara F, Maljevic S, Leshinsky-Silver E. Niturad CE, et al. Among authors: bennett back o. Brain. 2017 Nov 1;140(11):2879-2894. doi: 10.1093/brain/awx236. Brain. 2017. PMID: 29053855
Risk factors for epilepsy in children with cerebral palsy.
Zelnik N, Konopnicki M, Bennett-Back O, Castel-Deutsch T, Tirosh E. Zelnik N, et al. Eur J Paediatr Neurol. 2010 Jan;14(1):67-72. doi: 10.1016/j.ejpn.2009.06.002. Epub 2009 Jul 2. Eur J Paediatr Neurol. 2010. PMID: 19576827
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