A de novo loss-of-function GRIN2A mutation associated with childhood focal epilepsy and acquired epileptic aphasia.
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Functional Properties of Human NMDA Receptors Associated with Epilepsy-Related Mutations of GluN2A Subunit.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.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.A novel missense mutation in GRIN2A causes a nonepileptic neurodevelopmental disorder.Genetic etiologies of the electrical status epilepticus during slow wave sleep: systematic review.Sleep Related Epilepsy and Pharmacotherapy: An Insight
P2860
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P2860
A de novo loss-of-function GRIN2A mutation associated with childhood focal epilepsy and acquired epileptic aphasia.
description
2017 nî lūn-bûn
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2017年の論文
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2017年学术文章
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2017年学术文章
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2017年学术文章
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2017年学术文章
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2017年学术文章
@zh-sg
2017年學術文章
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2017年學術文章
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2017年學術文章
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name
A de novo loss-of-function GRI ...... nd acquired epileptic aphasia.
@ast
A de novo loss-of-function GRI ...... nd acquired epileptic aphasia.
@en
type
label
A de novo loss-of-function GRI ...... nd acquired epileptic aphasia.
@ast
A de novo loss-of-function GRI ...... nd acquired epileptic aphasia.
@en
prefLabel
A de novo loss-of-function GRI ...... nd acquired epileptic aphasia.
@ast
A de novo loss-of-function GRI ...... nd acquired epileptic aphasia.
@en
P2093
P2860
P1433
P1476
A de novo loss-of-function GRI ...... nd acquired epileptic aphasia.
@en
P2093
Anel Tankovic
Hirofumi Kusumoto
Hongjie Yuan
Stephen F Traynelis
Wenjuan Chen
Wenshu XiangWei
Yujia Zhang
P2860
P304
P356
10.1371/JOURNAL.PONE.0170818
P407
P577
2017-02-09T00:00:00Z