Heterogeneous clinical and functional features of GRIN2D-related developmental and epileptic encephalopathy
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Title
Heterogeneous clinical and functional features of GRIN2D-related developmental and epileptic encephalopathy
Authors
Keywords
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Journal
BRAIN
Volume 142, Issue 10, Pages 3009-3027
Publisher
Oxford University Press (OUP)
Online
2019-07-31
DOI
10.1093/brain/awz232
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Note: Only part of the references are listed.- A structurally-derived model of subunit-dependent NMDA receptor function
- (2018) Alasdair Gibb et al. JOURNAL OF PHYSIOLOGY-LONDON
- De novo variants in neurodevelopmental disorders with epilepsy
- (2018) Henrike O. Heyne et al. NATURE GENETICS
- Paediatric genomics: diagnosing rare disease in children
- (2018) Caroline F. Wright et al. NATURE REVIEWS GENETICS
- Disease-associated missense mutations in GluN2B subunit alter NMDA receptor ligand binding and ion channel properties
- (2018) Laura Fedele et al. Nature Communications
- Next Generation Sequencing Methods for Diagnosis of Epilepsy Syndromes
- (2018) Paul Dunn et al. Frontiers in Genetics
- Mechanism of NMDA receptor channel block by MK-801 and memantine
- (2018) Xianqiang Song et al. NATURE
- The phenotype of SCN8A developmental and epileptic encephalopathy
- (2018) Elena Gardella et al. NEUROLOGY
- A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis
- (2018) Heather E. Olson et al. AMERICAN JOURNAL OF HUMAN GENETICS
- De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias
- (2018) Katherine L. Helbig et al. AMERICAN JOURNAL OF HUMAN GENETICS
- GRIN2A-related disorders: genotype and functional consequence predict phenotype
- (2018) Vincent Strehlow et al. BRAIN
- GRIN2D variants in three cases of developmental and epileptic encephalopathy
- (2018) Naomi Tsuchida et al. CLINICAL GENETICS
- Optimizing genomic medicine in epilepsy through a gene-customized approach to missense variant interpretation
- (2017) Joshua Traynelis et al. GENOME RESEARCH
- GRIN1 mutation associated with intellectual disability alters NMDA receptor trafficking and function
- (2017) Wenjuan Chen et al. JOURNAL OF HUMAN GENETICS
- Neurology Individualized Medicine: When to Use Next-Generation Sequencing Panels
- (2017) Christopher J. Klein et al. MAYO CLINIC PROCEEDINGS
- Cryo-EM structures of the triheteromeric NMDA receptor and its allosteric modulation
- (2017) Wei Lü et al. SCIENCE
- Precision Medicine: NMDA Receptor–Targeted Therapy for GRIN2D Encephalopathy
- (2017) Jennifer A. Kearney Epilepsy Currents
- GABA A Receptor Coupling Junction and Pore GABRB3 Mutations are Linked to Early-Onset Epileptic Encephalopathy
- (2017) Ciria C. Hernandez et al. Scientific Reports
- Recurrent de novo mutations in neurodevelopmental disorders: properties and clinical implications
- (2017) Amy B. Wilfert et al. Genome Medicine
- Molecular Mechanism of Disease-Associated Mutations in the Pre-M1 Helix of NMDA Receptors and Potential Rescue Pharmacology
- (2017) Kevin K. Ogden et al. PLoS Genetics
- A de novo loss-of-function GRIN2A mutation associated with childhood focal epilepsy and acquired epileptic aphasia
- (2017) Kai Gao et al. PLoS One
- Mechanistic Insight into NMDA Receptor Dysregulation by Rare Variants in the GluN2A and GluN2B Agonist Binding Domains
- (2016) Sharon A. Swanger et al. AMERICAN JOURNAL OF HUMAN GENETICS
- GRIN2D Recurrent De Novo Dominant Mutation Causes a Severe Epileptic Encephalopathy Treatable with NMDA Receptor Channel Blockers
- (2016) Dong Li et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Diagnostic odyssey in severe neurodevelopmental disorders: toward clinical whole-exome sequencing as a first-line diagnostic test
- (2016) J. Thevenon et al. CLINICAL GENETICS
- Human GRIN2B variants in neurodevelopmental disorders
- (2016) Chun Hu et al. JOURNAL OF PHARMACOLOGICAL SCIENCES
- The genetic landscape of the epileptic encephalopathies of infancy and childhood
- (2016) Amy McTague et al. LANCET NEUROLOGY
- NMDA receptor subunit mutations in neurodevelopmental disorders
- (2015) Nail Burnashev et al. CURRENT OPINION IN PHARMACOLOGY
- SCN8Amutations in Chinese children with early onset epilepsy and intellectual disability
- (2015) Weijing Kong et al. EPILEPSIA
- 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) Sue Richards et al. GENETICS IN MEDICINE
- Gene Mutation Analysis in 253 Chinese Children with Unexplained Epilepsy and Intellectual/Developmental Disabilities
- (2015) Yujia Zhang et al. PLoS One
- Molecular bases of NMDA receptor subtype-dependent properties
- (2014) Nathan G. Glasgow et al. JOURNAL OF PHYSIOLOGY-LONDON
- NMDA receptors and L-type voltage-gated Ca2+ channels mediate the expression of bidirectional homeostatic intrinsic plasticity in cultured hippocampal neurons
- (2014) K.Y. Lee et al. NEUROSCIENCE
- Crystal structure of a heterotetrameric NMDA receptor ion channel
- (2014) E. Karakas et al. SCIENCE
- Functional analysis of a de novo GRIN2A missense mutation associated with early-onset epileptic encephalopathy
- (2014) Hongjie Yuan et al. Nature Communications
- NMDA receptor subunit diversity: impact on receptor properties, synaptic plasticity and disease
- (2013) Pierre Paoletti et al. NATURE REVIEWS NEUROSCIENCE
- Activation of both Group I and Group II metabotropic glutamatergic receptors suppress retinogeniculate transmission
- (2013) Y.-W. Lam et al. NEUROSCIENCE
- Key Binding Interactions for Memantine in the NMDA Receptor
- (2012) Walrati Limapichat et al. ACS Chemical Neuroscience
- The NMDA receptor complex as a therapeutic target in epilepsy: a review
- (2011) Mehdi Ghasemi et al. EPILEPSY & BEHAVIOR
- Molecular pharmacology of human NMDA receptors
- (2011) Maiken Hedegaard et al. NEUROCHEMISTRY INTERNATIONAL
- Glutamate Receptor Ion Channels: Structure, Regulation, and Function
- (2010) S. F. Traynelis et al. PHARMACOLOGICAL REVIEWS
- Mg2+ Imparts NMDA Receptor Subtype Selectivity to the Alzheimer's Drug Memantine
- (2009) S. E. Kotermanski et al. JOURNAL OF NEUROSCIENCE
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