Developmental and epileptic encephalopathies: from genetic heterogeneity to phenotypic continuum
Developmental and epileptic encephalopathies (DEEs) are a heterogeneous group of
disorders characterized by early-onset, often severe epileptic seizures and EEG …
disorders characterized by early-onset, often severe epileptic seizures and EEG …
[HTML][HTML] Neurobiology and therapeutic potential of α5-GABA type A receptors
TC Jacob - Frontiers in molecular neuroscience, 2019 - frontiersin.org
α5 subunit containing GABA type A receptors (GABAARs) have long been an enigmatic
receptor subtype of interest due to their specific brain distribution, unusual surface …
receptor subtype of interest due to their specific brain distribution, unusual surface …
[HTML][HTML] Lactate buildup at the site of chronic inflammation promotes disease by inducing CD4+ T cell metabolic rewiring
Accumulation of lactate in the tissue microenvironment is a feature of both inflammatory
disease and cancer. Here, we assess the response of immune cells to lactate in the context …
disease and cancer. Here, we assess the response of immune cells to lactate in the context …
[HTML][HTML] Gain-of-function and loss-of-function GABRB3 variants lead to distinct clinical phenotypes in patients with developmental and epileptic encephalopathies
NL Absalom, VWY Liao, KMH Johannesen… - Nature …, 2022 - nature.com
Many patients with developmental and epileptic encephalopathies present with variants in
genes coding for GABAA receptors. These variants are presumed to cause loss-of-function …
genes coding for GABAA receptors. These variants are presumed to cause loss-of-function …
[HTML][HTML] Alternative polyadenylation transcriptome-wide association study identifies APA-linked susceptibility genes in brain disorders
Alternative polyadenylation (APA) plays an essential role in brain development; however,
current transcriptome-wide association studies (TWAS) largely overlook APA in nominating …
current transcriptome-wide association studies (TWAS) largely overlook APA in nominating …
[HTML][HTML] Genetic variations in GABA metabolism and epilepsy
Y Feng, ZH Wei, C Liu, GY Li, XZ Qiao, YJ Gan… - Seizure, 2022 - Elsevier
Epilepsy is a paroxysmal brain disorder that results from an imbalance between neuronal
excitation and inhibition. Gamma-aminobutyric acid (GABA) is the most important inhibitory …
excitation and inhibition. Gamma-aminobutyric acid (GABA) is the most important inhibitory …
Gain-of-function variants in GABRD reveal a novel pathway for neurodevelopmental disorders and epilepsy
PK Ahring, VWY Liao, E Gardella, KM Johannesen… - Brain, 2022 - academic.oup.com
A potential link between GABRD encoding the δ subunit of extrasynaptic GABAA receptors
and neurodevelopmental disorders has largely been disregarded due to conflicting …
and neurodevelopmental disorders has largely been disregarded due to conflicting …
GABAA receptors in epilepsy: Elucidating phenotypic divergence through functional analysis of genetic variants
NL Absalom, SXN Lin, VWY Liao… - Journal of …, 2023 - Wiley Online Library
Normal brain function requires a tightly regulated balance between excitatory and inhibitory
neurotransmissions. γ‐Aminobutyric acid type A (GABAA) receptors represent the major …
neurotransmissions. γ‐Aminobutyric acid type A (GABAA) receptors represent the major …
A structural look at GABAA receptor mutations linked to epilepsy syndromes
CC Hernandez, RL Macdonald - Brain research, 2019 - Elsevier
Understanding the genetic variation in GABA A receptor subunit genes (GABRs), GABRA1-
6, GABRB1-3, GABRG1-3 and GABRD, in individuals affected by epilepsy may improve the …
6, GABRB1-3, GABRG1-3 and GABRD, in individuals affected by epilepsy may improve the …
Synaptic clustering differences due to different GABRB3 mutations cause variable epilepsy syndromes
YW Shi, QI Zhang, K Cai, S Poliquin, W Shen… - Brain, 2019 - academic.oup.com
GABRB3 is highly expressed early in the developing brain, and its encoded β3 subunit is
critical for GABAA receptor assembly and trafficking as well as stem cell differentiation in …
critical for GABAA receptor assembly and trafficking as well as stem cell differentiation in …