X-linked neonatal-onset epileptic encephalopathy associated with a gain-of-function variant p.R660T in GRIA3

• Published in: PLoS genetics Vol. 17; no. 6; p. e1009608
• Main Authors: 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, Thorpe, Erin, Bayat, Allan, Shi, Yun Stone
• Format: Journal Article
• Language: English
• Published: San Francisco Public Library of Science 23.06.2021; Public Library of Science (PLoS)
• Subjects: 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

The X-linked GRIA3 gene encodes the GLUA3 subunit of AMPA-type glutamate receptors. Pathogenic variants in this gene were previously reported in neurodevelopmental diseases, mostly in male patients but rarely in females. Here we report a de novo pathogenic missense variant in GRIA3 (c.1979G>C; p....