X-linked neonatal-onset epileptic encephalopathy associated with a gain-of-function variant p.R660T in GRIA3 - Sun, Jia-Hui; Chen, Jiang; Ayala Valenzuela, Fernando Eduardo; Brown, Carolyn; Masser-Frye, Diane; Jones, Marilyn; Romero, Leslie Patron; Rinaldi, Berardo; Li, Wenhui Laura; Li, Qing-Qing; Wu, Dan; Gerard, Benedicte; et al. (PLoS genetics, 2021)
Keywords: Biology and Life Sciences; Cell receptors; Cerebellum; Convulsions & seizures; Deactivation; Electroencephalography; Electroporation; Encephalopathy; Epilepsy; Excitatory postsynaptic potentials; Females; Genes; Genetic aspects; Genetic variation; Genomes; Glutamic acid receptors; Granule cells; Health aspects; Hernias; Hippocampus; Intellectual disabilities; Medicine and Health Sciences; Mutants; Neonates; Neurodevelopmental disorders; Neurons; Physiology; Research and Analysis Methods; Synaptic transmission; α-Amino-3-hydroxy-5-methyl-4-isoxazole propionic acid; Denmark