Myoclonic status epilepticus and cerebellar hypoplasia associated with a novel variant in the GRIA3 gene

• Published in: Neurogenetics Vol. 23; no. 1; pp. 27 - 35
• Main Authors: Rinaldi, Berardo, Ge, Yu-Han, Freri, Elena, Tucci, Arianna, Granata, Tiziana, Estienne, Margherita, Sun, Jia-Hui, Gérard, Bénédicte, Bayat, Allan, Efthymiou, Stephanie, Gervasini, Cristina, Shi, Yun Stone, Houlden, Henry, Marchisio, Paola, Milani, Donatella
• Format: Journal Article
• Language: English
• Published: Berlin/Heidelberg Springer Berlin Heidelberg 01.01.2022; Springer Nature B.V
• Subjects: Cerebellum; Cerebellum - abnormalities; Child; Chromosomes; Developmental Disabilities; Epilepsy; Gene mapping; Genes; Glutamic acid receptors; Human Genetics; Humans; Hypoplasia; Intellectual disabilities; Intellectual Disability - genetics; Ion channels (ligand-gated); Male; Medicine; Medicine & Public Health; Molecular Medicine; Nervous System Malformations; Neurology; Neurosciences; Original; Original Article; Pedigree; Seizures; Status Epilepticus; α-Amino-3-hydroxy-5-methyl-4-isoxazole propionic acid; AMPARs; Glutamate; Myoclonic status epilepticus; Cerebellar hypoplasia; GRIA3

AMPA-type glutamate receptors (AMPARs) are postsynaptic ionotropic receptors which mediate fast excitatory currents. AMPARs have a heterotetrameric structure, variably composed by the four subunits GluA1-4 which are encoded by genes GRIA1 - 4 . Increasing evidence support the role of pathogenic vari...