GRIN2D Recurrent De Novo Dominant Mutation Causes a Severe Epileptic Encephalopathy Treatable with NMDA Receptor Channel Blockers
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The National Institute of Neurological Disorders and Stroke (NINDS) Epilepsy Therapy Screening Program (ETSP)Computationally Discovered Potentiating Role of Glycans on NMDA Receptors.NGS Technologies as a Turning Point in Rare Disease Research , Diagnosis and Treatment.Ion Channel Genes and Epilepsy: Functional Alteration, Pathogenic Potential, and Mechanism of Epilepsy.Single-Dose Memantine Improves Cortical Oscillatory Response Dynamics in Patients with Schizophrenia.GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects.Recent advances in epilepsy.The Impact of Next-Generation Sequencing on the Diagnosis and Treatment of Epilepsy in Paediatric Patients.Models for discovery of targeted therapy in genetic epileptic encephalopathies.GRIN1 mutation associated with intellectual disability alters NMDA receptor trafficking and function.Precision Medicine: NMDA Receptor-Targeted Therapy for GRIN2D Encephalopathy.De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.Biallelic loss-of-function variants in DOCK3 cause muscle hypotonia, ataxia, and intellectual disability.Ion Channels in Genetic Epilepsy: From Genes and Mechanisms to Disease-Targeted Therapies.De Novo Variants in GRIA4 Lead to Intellectual Disability with or without Seizures and Gait Abnormalities.Monoallelic BMP2 Variants Predicted to Result in Haploinsufficiency Cause Craniofacial, Skeletal, and Cardiac Features Overlapping Those of 20p12 Deletions.Mutations of N-Methyl-D-Aspartate Receptor Subunits in Epilepsy.De novo mutations in GRIN1 cause extensive bilateral polymicrogyria.A Novel Negative Allosteric Modulator Selective for GluN2C/2D-Containing NMDA Receptors Inhibits Synaptic Transmission in Hippocampal Interneurons.Functional Investigation of a GRIN2A Variant Associated with Rolandic Epilepsy.Functional Evaluation of a De Novo GRIN2A Mutation Identified in a Patient with Profound Global Developmental Delay and Refractory Epilepsy.Duplications at 19q13.33 in patients with neurodevelopmental disorders.A novel dominant COL11A1 mutation in a child with Stickler syndrome type II is associated with recurrent fractures.Disease-associated missense mutations in GluN2B subunit alter NMDA receptor ligand binding and ion channel properties.A novel missense mutation in GRIN2A causes a nonepileptic neurodevelopmental disorder.ACTH and PMX53 recover synaptic transcriptome alterations in a rat model of infantile spasms.A structurally derived model of subunit-dependent NMDA receptor function
P2860
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P2860
GRIN2D Recurrent De Novo Dominant Mutation Causes a Severe Epileptic Encephalopathy Treatable with NMDA Receptor Channel Blockers
description
2016 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2016 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
artículu científicu espublizáu en 2016
@ast
im Oktober 2016 veröffentlichter wissenschaftlicher Artikel
@de
scientific journal article
@en
vedecký článok (publikovaný 2016/10/06)
@sk
vědecký článek publikovaný v roce 2016
@cs
wetenschappelijk artikel (gepubliceerd op 2016/10/06)
@nl
наукова стаття, опублікована в жовтні 2016
@uk
مقالة علمية (نشرت في 6-10-2016)
@ar
name
GRIN2D Recurrent De Novo Domin ...... NMDA Receptor Channel Blockers
@ast
GRIN2D Recurrent De Novo Domin ...... NMDA Receptor Channel Blockers
@en
GRIN2D Recurrent De Novo Domin ...... NMDA Receptor Channel Blockers
@nl
type
label
GRIN2D Recurrent De Novo Domin ...... NMDA Receptor Channel Blockers
@ast
GRIN2D Recurrent De Novo Domin ...... NMDA Receptor Channel Blockers
@en
GRIN2D Recurrent De Novo Domin ...... NMDA Receptor Channel Blockers
@nl
prefLabel
GRIN2D Recurrent De Novo Domin ...... NMDA Receptor Channel Blockers
@ast
GRIN2D Recurrent De Novo Domin ...... NMDA Receptor Channel Blockers
@en
GRIN2D Recurrent De Novo Domin ...... NMDA Receptor Channel Blockers
@nl
P2093
P2860
P1476
GRIN2D Recurrent De Novo Domin ...... NMDA Receptor Channel Blockers
@en
P2093
Anel Tankovic
Anthony J. Schulien
Celina von Stülpnagel-Steinbeis
Claudia Naase
Elias Aizenman
Elizabeth M. McCormick
Eric D. Marsh
Frieder Brueckner
P2860
P304
P356
10.1016/J.AJHG.2016.07.013
P407
P577
2016-10-06T00:00:00Z