GRIN1 mutations cause encephalopathy with infantile-onset epilepsy, and hyperkinetic and stereotyped movement disorders.
about
GRIN2D Recurrent De Novo Dominant Mutation Causes a Severe Epileptic Encephalopathy Treatable with NMDA Receptor Channel BlockersIn silico prioritization based on coexpression can aid epileptic encephalopathy gene discoveryIonotropic GABA and Glutamate Receptor Mutations and Human Neurologic Diseases.Molecular Mechanism of Disease-Associated Mutations in the Pre-M1 Helix of NMDA Receptors and Potential Rescue Pharmacology.Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy.GRIN1 Mutations in Early-Onset Epileptic Encephalopathy.Epileptic Encephalopathy in Childhood: A Stepwise Approach for Identification of Underlying Genetic Causes.GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects.Using the shared genetics of dystonia and ataxia to unravel their pathogenesis.Metabolic and Homeostatic Changes in Seizures and Acquired Epilepsy-Mitochondria, Calcium Dynamics and Reactive Oxygen Species.GRIN1 mutation associated with intellectual disability alters NMDA receptor trafficking and function.Emerging Monogenic Complex Hyperkinetic Disorders.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.Mutations of N-Methyl-D-Aspartate Receptor Subunits in Epilepsy.De novo mutations in GRIN1 cause extensive bilateral polymicrogyria.NMDA Receptors Regulate the Development of Neuronal Intrinsic Excitability through Cell-Autonomous Mechanisms.Functional Investigation of a GRIN2A Variant Associated with Rolandic Epilepsy.Novel homozygous missense variant of GRIN1 in two sibs with intellectual disability and autistic features without epilepsy.
P2860
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P2860
GRIN1 mutations cause encephalopathy with infantile-onset epilepsy, and hyperkinetic and stereotyped movement disorders.
description
2015 nî lūn-bûn
@nan
2015 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
2015 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
2015年の論文
@ja
2015年論文
@yue
2015年論文
@zh-hant
2015年論文
@zh-hk
2015年論文
@zh-mo
2015年論文
@zh-tw
2015年论文
@wuu
name
GRIN1 mutations cause encephal ...... tereotyped movement disorders.
@ast
GRIN1 mutations cause encephal ...... tereotyped movement disorders.
@en
GRIN1 mutations cause encephal ...... tereotyped movement disorders.
@nl
type
label
GRIN1 mutations cause encephal ...... tereotyped movement disorders.
@ast
GRIN1 mutations cause encephal ...... tereotyped movement disorders.
@en
GRIN1 mutations cause encephal ...... tereotyped movement disorders.
@nl
prefLabel
GRIN1 mutations cause encephal ...... tereotyped movement disorders.
@ast
GRIN1 mutations cause encephal ...... tereotyped movement disorders.
@en
GRIN1 mutations cause encephal ...... tereotyped movement disorders.
@nl
P2093
P50
P356
P1433
P1476
GRIN1 mutations cause encephal ...... tereotyped movement disorders.
@en
P2093
Akira Onuma
Chihiro Ohba
Fumiaki Tanaka
Fumihito Nozaki
Hirofumi Kodera
Jun Tohyama
Kazuhiro Haginoya
Kazuhiro Ogata
Lubov Blumkin
P304
P356
10.1111/EPI.12987
P577
2015-04-10T00:00:00Z