Three epilepsy-associated GABRG2 missense mutations at the γ+/β- interface disrupt GABAA receptor assembly and trafficking by similar mechanisms but to different extents.
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Epileptic encephalopathy de novo GABRB mutations impair GABAA receptor functionA de novo missense mutation of GABRB2 causes early myoclonic encephalopathyDeleterious Rare Variants Reveal Risk for Loss of GABAA Receptor Function in Patients with Genetic Epilepsy and in the General Population.Altered Channel Conductance States and Gating of GABAA Receptors by a Pore Mutation Linked to Dravet Syndrome.Ion Channel Genes and Epilepsy: Functional Alteration, Pathogenic Potential, and Mechanism of Epilepsy.Molecular Pathogenic Basis for GABRG2 Mutations Associated With a Spectrum of Epilepsy Syndromes, From Generalized Absence Epilepsy to Dravet Syndrome.Single-cell genetic expression of mutant GABAA receptors causing Human genetic epilepsy alters dendritic spine and GABAergic bouton formation in a mutation-specific mannerGABA A Receptor Coupling Junction and Pore GABRB3 Mutations are Linked to Early-Onset Epileptic Encephalopathy.GABA type a receptor trafficking and the architecture of synaptic inhibition.Genetic and Molecular Regulation of Extrasynaptic GABA-A Receptors in the Brain: Therapeutic Insights for Epilepsy.Rare variants in γ-aminobutyric acid type A receptor genes in rolandic epilepsy and related syndromes.De novo GABRG2 mutations associated with epileptic encephalopathies.SAHA (Vorinostat) Corrects Inhibitory Synaptic Deficits Caused by Missense Epilepsy Mutations to the GABAA Receptor γ2 Subunit.γ2 GABAR Trafficking and the Consequences of Human Genetic Variation
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P2860
Three epilepsy-associated GABRG2 missense mutations at the γ+/β- interface disrupt GABAA receptor assembly and trafficking by similar mechanisms but to different extents.
description
2014 nî lūn-bûn
@nan
2014年の論文
@ja
2014年論文
@yue
2014年論文
@zh-hant
2014年論文
@zh-hk
2014年論文
@zh-mo
2014年論文
@zh-tw
2014年论文
@wuu
2014年论文
@zh
2014年论文
@zh-cn
name
Three epilepsy-associated GABR ...... isms but to different extents.
@en
Three epilepsy-associated GABR ...... isms but to different extents.
@nl
type
label
Three epilepsy-associated GABR ...... isms but to different extents.
@en
Three epilepsy-associated GABR ...... isms but to different extents.
@nl
prefLabel
Three epilepsy-associated GABR ...... isms but to different extents.
@en
Three epilepsy-associated GABR ...... isms but to different extents.
@nl
P2093
P2860
P1476
Three epilepsy-associated GABR ...... nisms but to different extents
@en
P2093
Ningning Hu
Robert L Macdonald
Xuan Huang
P2860
P304
P356
10.1016/J.NBD.2014.04.015
P577
2014-05-04T00:00:00Z