GABBR1 monoallelic de novo variants linked to neurodevelopmental delay and epilepsy
Maria Lucia Cediel, Michał Stawarski, Xavier Blanc, Lenka Nosková, Martin Magner, Konrad Platzer, Janina Gburek‐Augustat, Dustin Baldridge, John N. Constantino, Emmanuelle Ranza, Bernhard Bettler, Stylianos E. Antonarakis
Topics & Concepts
EpilepsyPhenotypeHypotoniaReceptorBiologyGABAB receptorHEK 293 cellsGABAergicTransmembrane domainNeuroscienceGeneticsAgonistGeneGenetics and Neurodevelopmental DisordersAutism Spectrum Disorder ResearchRNA and protein synthesis mechanisms