De novo variants in GABRA4 are associated with a neurological phenotype including developmental delay, behavioral abnormalities and epilepsy
GABRA4基因的新生变异与神经系统表型相关，包括发育迟缓、行为异常和癫痫。
期刊:European Journal of Human Genetics
影响因子:4.6
doi:10.1038/s41431-024-01600-3
Sajan, Samin A; Gradisch, Ralph; Vogel, Florian D; Coffey, Alison J; Salyakina, Daria; Soler, Diana; Jayakar, Parul; Jayakar, Anuj; Bianconi, Simona E; Cooper, Annina H; Liu, Shuxi; William, Nancy; Benkel-Herrenbrück, Ira; Maiwald, Robert; Heller, Corina; Biskup, Saskia; Leiz, Steffen; Westphal, Dominik S; Wagner, Matias; Clarke, Amy; Stockner, Thomas; Ernst, Margot; Kesari, Akanchha; Krenn, Martin
