Article
Rare GABRA3 variants are associated with epileptic seizures, encephalopathy and dysmorphic features.
Brain : a journal of neurology - 1 Nov 2017
Niturad Cristina Elena, Lev Dorit, Kalscheuer Vera M, Charzewska Agnieszka, Schubert Julian, Lerman-Sagie Tally, Kroes Hester Y, Oegema Renske, Traverso Monica, Specchio Nicola, Lassota Maria, Chelly Jamel, Bennett-Back Odeya, Carmi Nirit, Koffler-Brill Tal, Iacomino Michele, Trivisano Marina, Capovilla Giuseppe, Striano Pasquale, Nawara Magdalena, Rzonca Sylwia, Fischer Ute, Bienek Melanie, Jensen Corinna, Hu Hao, Thiele Holger, Altmüller Janine, Krause Roland, May Patrick, Becker Felicitas, Balling Rudi, Biskup Saskia, Haas Stefan A, Nürnberg Peter, van Gassen Koen L I, Lerche Holger, Zara Federico, Maljevic Snezana, Leshinsky-Silver Esther
Abstract excerpt
Genetic epilepsies are caused by mutations in a range of different genes, many of them encoding ion channels, receptors or transporters. While the number of detected variants and genes increased dramatically in the recent years, pleiotropic effects have also been recognized, revealing that clinical syndromes with various degrees of severity arise from a single gene, a single mutation, or from different mutations...
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