Clustered mutations in the GRIK2 kainate receptor subunit gene underlie diverse neurodevelopmental disorders.

[1]  J. Lerma,et al.  Kainate Receptors, Homeostatic Gatekeepers of Synaptic Plasticity , 2019, Neuroscience.

[2]  N. Brown,et al.  Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System. , 2020, JAMA.

[3]  J. Partanen,et al.  Kainate receptors regulate development of glutamatergic synaptic circuitry in the rodent amygdala , 2020, eLife.

[4]  Ryan L. Collins,et al.  The mutational constraint spectrum quantified from variation in 141,456 humans , 2020, Nature.

[5]  M. Koromina,et al.  Damaging coding variants within kainate receptor channel genes are enriched in individuals with schizophrenia, autism and intellectual disabilities , 2019, Scientific Reports.

[6]  Francis Chee Kuan Tan,et al.  Distinct roles of GRIN2A and GRIN2B variants in neurological conditions , 2019, F1000Research.

[7]  Miguel A. Soler,et al.  AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders , 2019, Nature Communications.

[8]  F. Noubary,et al.  Tonic Activation of GluN2C/GluN2D-Containing NMDA Receptors by Ambient Glutamate Facilitates Cortical Interneuron Maturation , 2019, The Journal of Neuroscience.

[9]  Gregory M. Cooper,et al.  CADD: predicting the deleteriousness of variants throughout the human genome , 2018, Nucleic Acids Res..

[10]  H. Mefford,et al.  De novo mutations in GRIN1 cause extensive bilateral polymicrogyria , 2018, Brain : a journal of neurology.

[11]  E. C. Twomey,et al.  Structural Mechanisms of Gating in Ionotropic Glutamate Receptors , 2017, Biochemistry.

[12]  T. Strom,et al.  De Novo Variants in GRIA4 Lead to Intellectual Disability with or without Seizures and Gait Abnormalities. , 2017, American journal of human genetics.

[13]  P. Donnelly,et al.  A point mutation in the ion conduction pore of AMPA receptor GRIA3 causes dramatically perturbed sleep patterns as well as intellectual disability , 2017, Human molecular genetics.

[14]  Bradley P. Coe,et al.  Hotspots of missense mutation identify novel neurodevelopmental disorder genes and functional domains , 2017, Nature Neuroscience.

[15]  G. Swanson,et al.  Neto2 Assembles with Kainate Receptors in DRG Neurons during Development and Modulates Neurite Outgrowth in Adult Sensory Neurons , 2017, The Journal of Neuroscience.

[16]  D. Craig,et al.  A gain-of-function mutation in the GRIK2 gene causes neurodevelopmental deficits , 2017, Neurology: Genetics.

[17]  M. Mayer,et al.  Structural biology of glutamate receptor ion channel complexes. , 2016, Current opinion in structural biology.

[18]  S. Subramaniam,et al.  Structural basis of kainate subtype glutamate receptor desensitization , 2016, Nature.

[19]  Jeremy J Jay,et al.  Lollipops in the Clinic: Information Dense Mutation Plots for Precision Medicine , 2016, PloS one.

[20]  W. Chung,et al.  Clinical application of whole-exome sequencing across clinical indications , 2015, Genetics in Medicine.

[21]  James Y. Zou.  Analysis of protein-coding genetic variation in 60,706 humans , 2015, Nature.

[22]  D. Valle,et al.  GeneMatcher: A Matching Tool for Connecting Investigators with an Interest in the Same Gene , 2015, Human mutation.

[23]  Ryan J Taft,et al.  A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies. , 2015, Molecular genetics and metabolism.

[24]  Bale,et al.  Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology , 2015, Genetics in Medicine.

[25]  M. Kauffman,et al.  Expanding the spectrum of Grik2 mutations: intellectual disability, behavioural disorder, epilepsy and dystonia , 2015, Clinical genetics.

[26]  Eric Gouaux,et al.  X-ray structures of AMPA receptor–cone snail toxin complexes illuminate activation mechanism , 2014, Science.

[27]  E. Normand,et al.  Impaired hippocampus‐dependent spatial flexibility and sociability represent autism‐like phenotypes in GluK2 mice , 2014, Hippocampus.

[28]  S. DeVries,et al.  Kainate receptor subunit diversity underlying response diversity in retinal Off bipolar cells , 2014, The Journal of physiology.

[29]  P. Marin,et al.  CRMP2 Tethers Kainate Receptor Activity to Cytoskeleton Dynamics during Neuronal Maturation , 2013, The Journal of Neuroscience.

[30]  E. Normand,et al.  Deficits in Morphofunctional Maturation of Hippocampal Mossy Fiber Synapses in a Mouse Model of Intellectual Disability , 2012, The Journal of Neuroscience.

[31]  B. Copits,et al.  Dancing partners at the synapse: auxiliary subunits that shape kainate receptor function , 2012, Nature Reviews Neuroscience.

[32]  S. Tomita,et al.  Neto1 and Neto2: auxiliary subunits that determine key properties of native kainate receptors , 2012, The Journal of physiology.

[33]  D. Mott,et al.  Distinct Functional Roles of Subunits within the Heteromeric Kainate Receptor , 2011, The Journal of Neuroscience.

[34]  Joseph T. Glessner,et al.  A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder , 2011, Human Genetics.

[35]  C. Mulle,et al.  Kainate receptors coming of age: milestones of two decades of research , 2011, Trends in Neurosciences.

[36]  R. Dingledine,et al.  Glutamate Receptor Ion Channels: Structure, Regulation, and Function , 2010, Pharmacological Reviews.

[37]  P. Bork,et al.  A method and server for predicting damaging missense mutations , 2010, Nature Methods.

[38]  E. Gouaux,et al.  X-ray structure, symmetry and mechanism of an AMPA-subtype glutamate receptor , 2009, Nature.

[39]  Benjamin R. Rost,et al.  A defect in the ionotropic glutamate receptor 6 gene (GRIK2) is associated with autosomal recessive mental retardation. , 2007, American journal of human genetics.

[40]  G. Swanson,et al.  Critical Roles for the M3–S2 Transduction Linker Domain in Kainate Receptor Assembly and Postassembly Trafficking , 2007, The Journal of Neuroscience.

[41]  C. Jahr,et al.  Extracellular Glutamate Concentration in Hippocampal Slice , 2007, The Journal of Neuroscience.

[42]  D. Perrais,et al.  Fast Regulation of Axonal Growth Cone Motility by Electrical Activity , 2007, The Journal of Neuroscience.

[43]  I. Greger,et al.  AMPA receptor biogenesis and trafficking , 2007, Current Opinion in Neurobiology.

[44]  A. Pérez-Samartín,et al.  Excitotoxic damage to white matter , 2007, Journal of anatomy.

[45]  G. Collingridge,et al.  Functional Maturation of CA1 Synapses Involves Activity-Dependent Loss of Tonic Kainate Receptor-Mediated Inhibition of Glutamate Release , 2006, Neuron.

[46]  A. Pérez-Samartín,et al.  Activation of Kainate Receptors Sensitizes Oligodendrocytes to Complement Attack , 2006, The Journal of Neuroscience.

[47]  G. Collingridge,et al.  Endogenous Activation of Kainate Receptors Regulates Glutamate Release and Network Activity in the Developing Hippocampus , 2005, The Journal of Neuroscience.

[48]  Dai Zhang,et al.  Family‐based association study between autism and glutamate receptor 6 gene in Chinese Han trios , 2004, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

[49]  C. Mulle,et al.  Postnatal maturation of mossy fibre excitatory transmission in mouse CA3 pyramidal cells: a potential role for kainate receptors , 2004, The Journal of physiology.

[50]  J. Howe,et al.  Effects of the Lurcher Mutation on GluR1 Desensitization and Activation Kinetics , 2004, The Journal of Neuroscience.

[51]  S. Heinemann,et al.  Loss of Kainate Receptor-Mediated Heterosynaptic Facilitation of Mossy-Fiber Synapses in KA2−/− Mice , 2003, The Journal of Neuroscience.

[52]  D. Calkins,et al.  Localization of kainate receptors to the presynaptic active zone of the rod photoreceptor in primate retina , 2002, Visual Neuroscience.

[53]  S. Heinemann,et al.  Differential Activation of Individual Subunits in Heteromeric Kainate Receptors , 2002, Neuron.

[54]  T. Bourgeron,et al.  Linkage and association of the glutamate receptor 6 gene with autism , 2002, Molecular Psychiatry.

[55]  M. Yuzaki,et al.  Mutation of a glutamate receptor motif reveals its role in gating and δ2 receptor channel properties , 2000, Nature Neuroscience.

[56]  J. Roder,et al.  The Lurcher Mutation of an α-Amino-3-hydroxy-5-methyl- 4-isoxazolepropionic Acid Receptor Subunit Enhances Potency of Glutamate and Converts an Antagonist to an Agonist* , 2000, The Journal of Biological Chemistry.

[57]  D. Linden,et al.  Neurodegeneration in Lurcher mice caused by mutation in δ2 glutamate receptor gene , 1997, Nature.

[58]  J. Isaac,et al.  Evidence for silent synapses: Implications for the expression of LTP , 1995, Neuron.

[59]  J. Morrison,et al.  Selective RNA editing and subunit assembly of native glutamate receptors , 1994, Neuron.

[60]  W Wisden,et al.  A complex mosaic of high-affinity kainate receptors in rat brain , 1993, The Journal of neuroscience : the official journal of the Society for Neuroscience.

[61]  B. Sakmann,et al.  The KA-2 subunit of excitatory amino acid receptors shows widespread expression in brain and forms ion channels with distantly related subunits , 1992, Neuron.

[62]  Hollis T. Cline,et al.  NMDA receptor antagonists disrupt the retinotectal topographic map , 1989, Neuron.