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Paper Details

Missense variants in RPH3A cause defects in excitatory synaptic function and are associated with a clinically variable neurodevelopmental disorder.
Genet Med
0
2023
Arg209Lys), Arg235Ser, Asn618Ser, Gln73His)dn, GluN2A, GluN2A subunit, GluN2A-containing NMDA ionotropic glutamate receptors, N-methyl-D-aspartate, N-methyl-D-aspartate (NMDA)-type glutamate receptors, NMDA, NMDA ionotropic glutamate receptor, RPH3A, Rph3A variant, Thr450Ser, autism spectrum disorder, calcium, epilepsy, epileptic seizures, glutamate, neurodevelopmental disorder, neurodevelopmental disorders, neuronal cultures, neurons, p, p.(, p.(Thr450Ser)dn, patients, rat, rat hippocampal neuronal cultures
Author NameAffiliation
Valentina CiprianiWilliam Harvey Research Institute, Queen Mary University of London
Susan M HiattHudsonAlpha Institute for Biotechnology
Whitley V KelleyHudsonAlpha Institute for Biotechnology
Sanjay M SisodiyaUCL Queen Square Institute of Neurology
Marco TartagliaIRCCS
Silvia De RubeisSeaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, NY The Mindich Child Health and Development Institute, NY Friedman Brain Institute
Joseph D BuxbaumSeaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, NY The Mindich Child Health and Development Institute, NY Friedman Brain Institute
Joseph D BuxbaumSeaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, NY The Mindich Child Health and Development Institute, NY Friedman Brain Institute
Damian SmedleyWilliam Harvey Research Institute, Queen Mary University of London
Giovanni Battista FerreroUniversity of Turin
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Release 1.2