α6-Containing GABAA receptors: functional roles and therapeutic potentials
GABAA receptors containing the α 6 subunit are highly expressed in cerebellar granule cells
and less abundantly in many other neuronal and peripheral tissues. Here, we for the first …
and less abundantly in many other neuronal and peripheral tissues. Here, we for the first …
GABRB2, a key player in neuropsychiatric disorders and beyond
M Barki, H Xue - Gene, 2022 - Elsevier
The GABA receptors represent the main inhibitory system in the central nervous system that
ensure synaptogenesis, neurogenesis, and the regulation of neuronal plasticity and …
ensure synaptogenesis, neurogenesis, and the regulation of neuronal plasticity and …
Novel and de novo mutations in pediatric refractory epilepsy
J Liu, L Tong, S Song, Y Niu, J Li, X Wu, J Zhang… - Molecular brain, 2018 - Springer
Pediatric refractory epilepsy is a broad phenotypic spectrum with great genetic
heterogeneity. Next-generation sequencing (NGS) combined with Sanger sequencing could …
heterogeneity. Next-generation sequencing (NGS) combined with Sanger sequencing could …
Downregulation of GABAA Receptor Protein Subunits α6, β2, δ, ε, γ2, θ, and ρ2 in Superior Frontal Cortex of Subjects with Autism
SH Fatemi, TJ Reutiman, TD Folsom… - Journal of autism and …, 2014 - Springer
We measured protein and mRNA levels for nine gamma-aminobutyric acid A (GABA A)
receptor subunits in three brain regions (cerebellum, superior frontal cortex, and parietal …
receptor subunits in three brain regions (cerebellum, superior frontal cortex, and parietal …
Variable expression of GABAA receptor subunit gamma 2 mutation in a nuclear family displaying developmental and encephalopathic phenotype
G Nwosu, SB Reddy, HRM Riordan… - International journal of …, 2022 - mdpi.com
Mutations in GABAA receptor subunit genes (GABRs) are a major etiology for
developmental and epileptic encephalopathies (DEEs). This article reports a case of a …
developmental and epileptic encephalopathies (DEEs). This article reports a case of a …
[HTML][HTML] GABRA1 and GABRA6 gene mutations in idiopathic generalized epilepsy patients
The GABA receptor is an important epilepsy-associated candidate gene, and has always
been a focus in etiology and in the treatment of epilepsy. This study explores the genetic …
been a focus in etiology and in the treatment of epilepsy. This study explores the genetic …
GABRG2, rs211037 is associated with epilepsy susceptibility, but not with antiepileptic drug resistance and febrile seizures
Objective Several antiepileptic drugs (AEDs) are known to target the GABA A receptor
through positive allosteric modulation of the receptors, thereby enhancing GABA A receptor …
through positive allosteric modulation of the receptors, thereby enhancing GABA A receptor …
In Silico Prediction of Gamma‐Aminobutyric Acid Type‐A Receptors Using Novel Machine‐Learning‐Based SVM and GBDT Approaches
Z Liao, Y Huang, X Yue, H Lu… - BioMed research …, 2016 - Wiley Online Library
Gamma‐aminobutyric acid type‐A receptors (GABAARs) belong to multisubunit membrane
spanning ligand‐gated ion channels (LGICs) which act as the principal mediators of rapid …
spanning ligand‐gated ion channels (LGICs) which act as the principal mediators of rapid …
Phenotypic spectrum of patients with GABRB2 variants: from mild febrile seizures to severe epileptic encephalopathy
Y Yang, W Xiangwei, X Zhang, J Xiao… - … Medicine & Child …, 2020 - Wiley Online Library
Aim To characterize the different phenotypes of GABRB2‐related epilepsy and to establish a
genotype–phenotype correlation. Method We used next‐generation sequencing to identify …
genotype–phenotype correlation. Method We used next‐generation sequencing to identify …