GABAA receptors in epilepsy: Elucidating phenotypic divergence through functional analysis of genetic variants

NL Absalom, SXN Lin, VWY Liao… - Journal of …, 2024 - 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 …

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 …

Coadministered cannabidiol and clobazam: Preclinical evidence for both pharmacodynamic and pharmacokinetic interactions

LL Anderson, NL Absalom, SV Abelev, IK Low… - …, 2019 - Wiley Online Library
Objective Cannabidiol (CBD) has been approved by the US Food and Drug Administration
(FDA) to treat intractable childhood epilepsies, such as Dravet syndrome and Lennox …

Cannabigerolic acid, a major biosynthetic precursor molecule in cannabis, exhibits divergent effects on seizures in mouse models of epilepsy

LL Anderson, M Heblinski, NL Absalom… - British journal of …, 2021 - Wiley Online Library
Background and Purpose Cannabis has been used to treat epilepsy for millennia, with such
use validated by regulatory approval of cannabidiol (CBD) for Dravet syndrome …

Delta-containing GABAA receptors in pain management: Promising targets for novel analgesics

Y Luo, AS Kusay, T Jiang, M Chebib, T Balle - Neuropharmacology, 2021 - Elsevier
Communication between nerve cells depends on the balance between excitatory and
inhibitory circuits. GABA, the major inhibitory neurotransmitter, regulates this balance and …

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 …

Distinct neurodevelopmental and epileptic phenotypes associated with gain-and loss-of-function GABRB2 variants

NA Mohammadi, PK Ahring, VWY Liao, HC Chua… - …, 2024 - thelancet.com
Background Variants in GABRB2, encoding the β2 subunit of the γ-aminobutyric acid type A
(GABA A) receptor, can result in a diverse range of conditions, ranging from febrile seizures …

The Z-Drugs Zolpidem, Zaleplon, and Eszopiclone Have Varying Actions on Human GABAA Receptors Containing γ1, γ2, and γ3 Subunits

G Richter, VWY Liao, PK Ahring… - Frontiers in neuroscience, 2020 - frontiersin.org
γ-Aminobutyric-acid type A (GABA A) receptors expressing the γ1 or γ3 subunit are only
found within a few regions of the brain, some of which are involved in sleep. No known …

GABRA1‐Related Disorders: From Genetic to Functional Pathways

E Musto, VWY Liao, KM Johannesen… - Annals of …, 2024 - Wiley Online Library
Objective Variants in GABRA1 have been associated with a broad epilepsy spectrum,
ranging from genetic generalized epilepsies to developmental and epileptic …

Understanding paralogous epilepsy–associated GABAA receptor variants: Clinical implications, mechanisms, and potential pitfalls

ASH Kan, AS Kusay, NA Mohammadi, SXN Lin… - Proceedings of the …, 2024 - pnas.org
Recent discoveries have revealed that genetic variants in γ-aminobutyric acid type A
(GABAA) receptor subunits can lead to both gain-of-function (GOF) and loss-of-function …