Developmental and epileptic encephalopathies (DEEs) are a heterogeneous group of
disorders characterized by early-onset, often severe epileptic seizures and EEG …

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 …

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 …

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 …

Alternative polyadenylation (APA) plays an essential role in brain development; however,
current transcriptome-wide association studies (TWAS) largely overlook APA in nominating …

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 …

A potential link between GABRD encoding the δ subunit of extrasynaptic GABAA receptors
and neurodevelopmental disorders has largely been disregarded due to conflicting …

Normal brain function requires a tightly regulated balance between excitatory and inhibitory
neurotransmissions. γ‐Aminobutyric acid type A (GABAA) receptors represent the major …

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 …

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 …