Nathan L Absalom

Publication Activity (10 Years)

Years Active: 2021-2024
Publications (10 Years): 6

Top Topics

Escherichia Coli

Intellectual Disability

Top Venues

Brain : a journal of neurology

Journal of neurochemistry

Nature communications

This page only lists publications with an associated author ORCID identifier.

Publications

Nathan L Absalom, Serene El-Kamand, Han Chow Chua, Philip Kiaer Ahring
Follow the allosteric transitions to predict variant pathogenicity: a channel-specific approach. Brain : a journal of neurology 147 (5) (2024)
Nathan L Absalom, Serene El-Kamand, Han Chow Chua, Philip Kiaer Ahring
Follow the allosteric transitions to predict variant pathogenicity: a channel-specific approach. Brain : a journal of neurology 147 (5) (2024)
Nathan L Absalom, Susan X N Lin, Vivian Wan Yu Liao, Han Chow Chua, Rikke Steensjerre Moller, Mary Chebib, Philip Kiaer Ahring
GABA A receptors in epilepsy: Elucidating phenotypic divergence through functional analysis of genetic variants. Journal of neurochemistry (2023)
Philip Kiaer Ahring, Vivian Wan Yu Liao, Susan X N Lin, Nathan L Absalom, Mary Chebib, Rikke Steensjerre Moller
The de novo GABRA4 p.Thr300Ile variant found in a patient with early-onset intractable epilepsy and neurodevelopmental abnormalities displays gain-of-function traits. Epilepsia 63 (9) (2022)
Nathan L Absalom, Vivian Wan Yu Liao, Katrine Marie Johannesen, Elena Gardella, Julia Jacobs, Gaëtan Lesca, Zeynep Gokce-Samar, Alexis A Arzimanoglou, Shimriet Zeidler, Pasquale Striano, Pierre Meyer, Ira Benkel-Herrenbrueck, Inger-Lise Mero, Jutta Rummel, Mary Chebib, Rikke Steensjerre Moller, Philip Kiaer Ahring
Gain-of-function and loss-of-function GABRB3 variants lead to distinct clinical phenotypes in patients with developmental and epileptic encephalopathies. Nature communications 13 (1) (2022)
Lyndsey L Anderson, Marika Heblinski, Nathan L Absalom, Nicole A Hawkins, Michael T Bowen, Melissa J Benson, Fan Zhang, Dilara Bahceci, Peter T Doohan, Mary Chebib, Iain S McGregor, Jennifer A Kearney, Jonathon C Arnold
Cannabigerolic acid, a major biosynthetic precursor molecule in cannabis, exhibits divergent effects on seizures in mouse models of epilepsy. British journal of pharmacology 178 (24) (2021)