GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects.
about
Early-Life Epilepsies and the Emerging Role of Genetic Testing.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.De novo mutations in GRIN1 cause extensive bilateral polymicrogyria.Using medical exome sequencing to identify the causes of neurodevelopmental disorders: Experience of 2 clinical units and 216 patients.Disease-associated missense mutations in GluN2B subunit alter NMDA receptor ligand binding and ion channel properties.Surface Expression, Function, and Pharmacology of Disease-Associated Mutations in the Membrane Domain of the Human GluN2B Subunit.A novel missense mutation in GRIN2A causes a nonepileptic neurodevelopmental disorder.Mutations in SCN3A cause early infantile epileptic encephalopathyDisruption of GRIN2B Impairs Differentiation in Human NeuronsAtypical Rett Syndrome and Intractable Epilepsy With Novel MutationClustering the autisms using glutamate synapse protein interaction networks from cortical and hippocampal tissue of seven mouse models
P2860
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P2860
GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects.
description
2017 nî lūn-bûn
@nan
2017年の論文
@ja
2017年論文
@yue
2017年論文
@zh-hant
2017年論文
@zh-hk
2017年論文
@zh-mo
2017年論文
@zh-tw
2017年论文
@wuu
2017年论文
@zh
2017年论文
@zh-cn
name
GRIN2B encephalopathy: novel f ...... quences and treatment aspects.
@en
type
label
GRIN2B encephalopathy: novel f ...... quences and treatment aspects.
@en
prefLabel
GRIN2B encephalopathy: novel f ...... quences and treatment aspects.
@en
P2093
P2860
P50
P1476
GRIN2B encephalopathy: novel f ...... quences and treatment aspects.
@en
P2093
Alexander Winschel
Alison M Muir
Amy Decker
Amy LaCroix
Anne T Berg
Anup D Patel
Arndt Rolfs
Bodo Laube
Boris Keren
Brad T Tinkle
P2860
P304
P356
10.1136/JMEDGENET-2016-104509
P407
P50
P577
2017-04-04T00:00:00Z