A novel GABRG2 mutation, p.R136*, in a family with GEFS+ and extended phenotypes.

A novel GABRG2 mutation, p.R136*, in a family with GEFS+ and extended phenotypes.

Item
http://www.wikidata.org/entity/Q34464870
Differential protein structural disturbances and suppression of assembly partners produced by nonsense GABRG2 epilepsy mutations: implications for disease phenotypic heterogeneity.Novel GABRG2 mutations cause familial febrile seizuresIon 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.Differential molecular and behavioural alterations in mouse models of GABRG2 haploinsufficiency versus dominant negative mutations associated with human epilepsyComparison of γ-Aminobutyric Acid, Type A (GABAA), Receptor αβγ and αβδ Expression Using Flow Cytometry and Electrophysiology: EVIDENCE FOR ALTERNATIVE SUBUNIT STOICHIOMETRIES AND ARRANGEMENTSSingle-cell genetic expression of mutant GABAA receptors causing Human genetic epilepsy alters dendritic spine and GABAergic bouton formation in a mutation-specific mannerMutations in GABRB3: From febrile seizures to epileptic encephalopathies.Genetic and Molecular Regulation of Extrasynaptic GABA-A Receptors in the Brain: Therapeutic Insights for Epilepsy.Defects at the crossroads of GABAergic signaling in generalized genetic epilepsies.Rare variants in γ-aminobutyric acid type A receptor genes in rolandic epilepsy and related syndromes.De novo GABRG2 mutations associated with epileptic encephalopathies.γ2 GABAR Trafficking and the Consequences of Human Genetic Variation
P2860

A novel GABRG2 mutation, p.R136*, in a family with GEFS+ and extended phenotypes.

Item
http://www.wikidata.org/entity/Q34464870
description
2014 nî lūn-bûn
@nan
2014 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2014 թվականի հունվարին հրատարակված գիտական հոդված
@hy
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
name
A novel GABRG2 mutation, p.R136*, in a family with GEFS+ and extended phenotypes.
@ast
A novel GABRG2 mutation, p.R136*, in a family with GEFS+ and extended phenotypes.
@en
A novel GABRG2 mutation, p.R136*, in a family with GEFS+ and extended phenotypes.
@nl
type
label
A novel GABRG2 mutation, p.R136*, in a family with GEFS+ and extended phenotypes.
@ast
A novel GABRG2 mutation, p.R136*, in a family with GEFS+ and extended phenotypes.
@en
A novel GABRG2 mutation, p.R136*, in a family with GEFS+ and extended phenotypes.
@nl
prefLabel
A novel GABRG2 mutation, p.R136*, in a family with GEFS+ and extended phenotypes.
@ast
A novel GABRG2 mutation, p.R136*, in a family with GEFS+ and extended phenotypes.
@en
A novel GABRG2 mutation, p.R136*, in a family with GEFS+ and extended phenotypes.
@nl
P1433
P1476
P2093
P2860
P304
P31
P356
P478
P50
P577
P698
P932
P356
P1433
P1476
A novel GABRG2 mutation, p.R136*, in a family with GEFS+ and extended phenotypes
@en
P2093
P2860
P304
P31
P356
P478
P50
P577
P698
P932