Associated Papers
Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical Practice.
McKnight D et al.
Jama Neurology, 2022
36315135 (PubMed )
Supplement: jamaneurol-e223651-s001.pdf
Abnormal sensory perception masks behavioral performance of Grin1 knockdown mice.
Lipina T et al.
Genes, Brain, and Behavior, 2022
The C-terminal domains of the NMDA receptor: How intrinsically disordered tails affect signalling, plasticity and disease.
Warnet XL et al.
The European Journal of Neuroscience, 2021
Regulation of the NMDA receptor by its cytoplasmic domains: (How) is the tail wagging the dog?
Ishchenko Y et al.
Neuropharmacology, 2021
De novo mutations in folate-related genes associated with common developmental disorders.
Luo T et al.
Computational and Structural Biotechnology Journal, 2021
33777337 (PubMed )
Supplement: mmc6.xlsx › Sheet1
Genetic variations associated with pharmacoresistant epilepsy (Review).
Cárdenas-Rodríguez N et al.
Molecular Medicine Reports, 2020
The combination of whole-exome sequencing and copy number variation sequencing enables the diagnosis of rare neurological disorders.
Jiao Q et al.
Clinical Genetics, 2019
Gene mutational analysis in a cohort of Chinese children with unexplained epilepsy: Identification of a new KCND3 phenotype and novel genes causing Dravet syndrome.
Wang J et al.
Seizure, 2019
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
GRIN1 mutation associated with intellectual disability alters NMDA receptor trafficking and function.
Chen W et al.
Journal of Human Genetics, 2017
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
Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy.
Lemke JR et al.
Neurology, 2016
ENU-mutagenesis mice with a non-synonymous mutation in Grin1 exhibit abnormal anxiety-like behaviors, impaired fear memory, and decreased acoustic startle response.
Umemori J et al.
Bmc Research Notes, 2013
Phenotypic characterization of a new Grin1 mutant mouse generated by ENU mutagenesis.
Furuse T et al.
The European Journal of Neuroscience, 2010
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