Detalhe da pesquisa
1.
Heterozygous GABAA receptor ß3 subunit N110D knock-in mice have epileptic spasms.
Epilepsia
; 64(4): 1061-1073, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36495145
2.
Impaired State-Dependent Potentiation of GABAergic Synaptic Currents Triggers Seizures in a Genetic Generalized Epilepsy Model.
Cereb Cortex
; 31(2): 768-784, 2021 01 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32930324
3.
Endoplasmic reticulum stress increases inflammatory cytokines in an epilepsy mouse model Gabrg2+/Q390X knockin: A link between genetic and acquired epilepsy?
Epilepsia
; 61(10): 2301-2312, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32944937
4.
Synaptic clustering differences due to different GABRB3 mutations cause variable epilepsy syndromes.
Brain
; 142(10): 3028-3044, 2019 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31435640
5.
Altered inhibitory synapses in de novo GABRA5 and GABRA1 mutations associated with early onset epileptic encephalopathies.
Brain
; 142(7): 1938-1954, 2019 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31056671
6.
A Missense Mutation A384P Associated with Human Hyperekplexia Reveals a Desensitization Site of Glycine Receptors.
J Neurosci
; 38(11): 2818-2831, 2018 03 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-29440552
7.
Molecular basis for and chemogenetic modulation of comorbidities in GABRG2-deficient epilepsies.
Epilepsia
; 60(6): 1137-1149, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31087664
8.
GABA beyond the synapse: defining the subtype-specific pharmacodynamics of non-synaptic GABAA receptors.
J Physiol
; 596(18): 4475-4495, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-30019335
9.
Differential molecular and behavioural alterations in mouse models of GABRG2 haploinsufficiency versus dominant negative mutations associated with human epilepsy.
Hum Mol Genet
; 25(15): 3192-3207, 2016 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27340224
10.
De novo GABRG2 mutations associated with epileptic encephalopathies.
Brain
; 140(1): 49-67, 2017 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27864268
11.
A de novo missense mutation of GABRB2 causes early myoclonic encephalopathy.
J Med Genet
; 54(3): 202-211, 2017 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-27789573
12.
Comparison of γ-Aminobutyric Acid, Type A (GABAA), Receptor αßγ and αßδ Expression Using Flow Cytometry and Electrophysiology: EVIDENCE FOR ALTERNATIVE SUBUNIT STOICHIOMETRIES AND ARRANGEMENTS.
J Biol Chem
; 291(39): 20440-61, 2016 Sep 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-27493204
13.
Epileptic encephalopathy de novo GABRB mutations impair γ-aminobutyric acid type A receptor function.
Ann Neurol
; 79(5): 806-825, 2016 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-26950270
14.
Overexpressing wild-type γ2 subunits rescued the seizure phenotype in Gabrg2+/Q390X Dravet syndrome mice.
Epilepsia
; 58(8): 1451-1461, 2017 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-28586508
15.
The K328M substitution in the human GABAA receptor gamma2 subunit causes GEFS+ and premature sudden death in knock-in mice.
Neurobiol Dis
; 152: 105296, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33582225
16.
Three epilepsy-associated GABRG2 missense mutations at the γ+/ß- interface disrupt GABAA receptor assembly and trafficking by similar mechanisms but to different extents.
Neurobiol Dis
; 68: 167-79, 2014 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-24798517
17.
GABAA receptor biogenesis is impaired by the γ2 subunit febrile seizure-associated mutation, GABRG2(R177G).
Neurobiol Dis
; 69: 215-24, 2014 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-24874541
18.
A novel GABRG2 mutation, p.R136*, in a family with GEFS+ and extended phenotypes.
Neurobiol Dis
; 64: 131-141, 2014 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-24407264
19.
Trafficking-deficient mutant GABRG2 subunit amount may modify epilepsy phenotype.
Ann Neurol
; 74(4): 547-59, 2013 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-23720301
20.
Co-expression of γ2 subunits hinders processing of N-linked glycans attached to the N104 glycosylation sites of GABAA receptor ß2 subunits.
Neurochem Res
; 39(6): 1088-103, 2014 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-24213971