Katrine M. JohannesenSumaiya IqbalMilena GuazziNazanin A. MohammadiPEREZ PALMA, EDUARDO ESTEBANEDUARDO ESTEBANPEREZ PALMAElise SchaeferAnne De Saint MartinMarie Therese AbiwardeAmy McTagueRoser PonsAmelie PitonManju A. KurianGautam AmbegaonkarHelen FirthAlba Sanchis-JuanMarie DeprezKatrien JansenLiesbeth De WaeleEva H. BriltraNienke E. VerbeekMarjan van KempenWalid FazeliPasquale StrianoFederico ZaraGerhard VisserHilde M.H. BraakmanMartin HaeuslerMiriam ElbrachtUlvi VaherThomas SmolJohannes R. LemkeKonrad PlatzerJoanna KennedyKarl Martin KleinPing Yee Billie AuKimberly SmythJulie KaplanMorgan ThomasMalin K. DewenterArgirios DinopoulosArthur J. CampbellDennis LalDamien LedererVivian W.Y. LiaoPhilip K. AhringRikke S. MøllerElena Gardella2023-01-092023-01-092022Johannesen, K. M., Iqbal, S., Guazzi, M., Mohammadi, N. A., Pérez-Palma, E., Schaefer, E., De Saint Martin, A., Abiwarde, M. T., McTague, A., Pons, R., Piton, A., Kurian, M. A., Ambegaonkar, G., Firth, H., Sanchis-Juan, A., Deprez, M., Jansen, K., De Waele, L., Briltra, E. H., … Gardella, E. (2022). Structural mapping of GABRB3 variants reveals genotype–phenotype correlations. Genetics in Medicine, 24(3), 681-693. https://doi.org/10.1016/j.gim.2021.11.004https://repositorio.udd.cl/handle/11447/5428https://investigadores.udd.cl/handle/123456789/510410.1016/j.gim.2021.11.0042-s2.0-85121571914WOS:000797902900012de-novo mutationsgaba(a) receptorfebrile seizuresilae commissionepilepsyclassificationonsetepilepsygenetic association studieshumansintellectual disabilitymutationphenotypereceptors, gaba-a4 aminobutyric acid a receptor beta3barbituric acid derivativeclobazamclonazepamlamotriginelevetiracetamsteroidstiripentolvalproic acidvigabatrin4 aminobutyric acid a receptorgabrb3 protein, humanadolescentadultarticlechildcohort analysiscontrolled studydisease severityelectroencephalographyfocal epilepsygabrb3 genegeneralized epilepsygenetic counselinggenetic variabilitygenotype phenotype correlationhumaninfantintellectual impairmentinternational cooperationmajor clinical studymissense mutationmutational analysisonset agepeptide mappingphenotypic variationprotein analysisprotein domainprotein structurethree-dimensional imagingepilepsygenetic association studygeneticsintellectual impairmentmutationphenotypeStructural mapping of GABRB3 variants reveals genotype–phenotype correlationsResource Types::text::journal::journal article