Missense variants in RPH3A cause defects in excitatory synaptic function and are associated with a clinically variable neurodevelopmental disorder

Keyphrases

• Missense Variants 100%
• Synaptic Function 100%
• Neurodevelopmental Disorders 100%
• RPH3A 100%
• GluN2B 80%
• N-methyl-D-aspartate 60%
• Ionotropic Receptor 40%
• In Vitro Model 20%
• Cell Surface 20%
• Epilepsy 20%
• Synaptic Plasticity 20%
• Autism Spectrum Disorder 20%
• Exome Sequencing 20%
• Missense 20%
• Spontaneous Excitatory Postsynaptic Current (sEPSC) 20%
• Epileptic Seizure 20%
• Electrophysiological Recordings 20%
• Neuronal Culture 20%
• Glutamate Receptors 20%
• Neurodevelopmental 20%
• Surface Level 20%
• Synaptic Localization 20%
• Project Data 20%
• High-functioning Autism Spectrum Disorder (HFASD) 20%
• In Silico 20%
• Dendritic Spine Morphology 20%
• Extrasynaptic 20%
• Calcium Level 20%
• Surface Form 20%
• Receptor Current 20%
• Gain-of-function Variant 20%
• 100,000 Genomes Project 20%
• Heterozygous Variant 20%
• Hippocampal Culture 20%
• GeneMatcher 20%
• GluN2A Subunit 20%

Neuroscience

• Aspartic Acid 100%
• Neurodevelopmental Disorder 100%
• Pervasive Developmental Disorder 66%
• Glutamate Receptor 66%
• In Vitro 33%
• Dendritic Spine 33%
• Synaptic Plasticity 33%
• Epileptic Seizure 33%
• Ionotropic Receptor 33%
• Ionotropic Glutamate Receptor 33%
• Exome Sequencing 33%
• Genome Project 33%
• Psychopathology 33%