Associated Papers
Memantine treatment in individuals with GRIN gain-of-function variants is associated with improvements in behavior, development, and seizure frequency.
Karnstedt M et al.
Epilepsia, 2026
Clinically Relevant Genes Identified in Cerebral Palsy Cohorts Following Evaluation of the Clinical Description and Phenotype: A Systematic Review.
Wilson YA et al.
Journal of Child Neurology, 2024
Genetic Testing for Global Developmental Delay in Early Childhood.
Zhang J et al.
Jama Network Open, 2024
Exome sequencing improves the molecular diagnostics of paediatric unexplained neurodevelopmental disorders.
Wayhelova M et al.
Orphanet Journal of Rare Diseases, 2024
N-methyl-D-aspartate receptor hypofunction as a potential contributor to the progression and manifestation of many neurological disorders.
Dong B et al.
Frontiers in Molecular Neuroscience, 2023
Paradigmatic De Novo GRIN1 Variants Recapitulate Pathophysiological Mechanisms Underlying GRIN1-Related Disorder Clinical Spectrum.
Santos-Gómez A et al.
International Journal of Molecular Sciences, 2021
A longitudinal footprint of genetic epilepsies using automated electronic medical record interpretation.
Ganesan S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Hodgkin-Huxley-Katz Prize Lecture: Genetic and pharmacological control of glutamate receptor channel through a highly conserved gating motif.
Perszyk RE et al.
The Journal of Physiology, 2020
Noncardiac genetic predisposition in sudden infant death syndrome.
Gray B et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
A conserved glycine harboring disease-associated mutations permits NMDA receptor slow deactivation and high Ca2+ permeability.
Amin JB et al.
Nature Communications, 2018
Mutations of N-Methyl-D-Aspartate Receptor Subunits in Epilepsy.
Xu XX et al.
Neuroscience Bulletin, 2018
De novo mutations in GRIN1 cause extensive bilateral polymicrogyria.
Fry AE et al.
Brain : a Journal of Neurology, 2018
De novo GRIN1 mutations: An emerging cause of severe early infantile encephalopathy.
Zehavi Y et al.
European Journal of Medical Genetics, 2017
Novel homozygous missense variant of GRIN1 in two sibs with intellectual disability and autistic features without epilepsy.
Rossi M et al.
European Journal of Human Genetics : Ejhg, 2017
Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients.
de Kovel CG et al.
Molecular Genetics & Genomic Medicine, 2016
Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy.
Lemke JR et al.
Neurology, 2016