Publications by authors named "Nathan Absalom"

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Functional consequence of pathogenic GABRA3 variants determines whether X-linked inheritance is dominant or recessive.
Katrine M Johannesen, Khaing Phyu Aung, Vivian Wy Liao, Nathan L Absalom, Han C Chua

J Clin Invest· November 2025

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Phenotypic Spectrum in Individuals With Pathogenic Loss- and Gain-of-Function Variants.
Alessandra Rossi, Susan X N Lin, Nathan L Absalom, Sebastian Ortiz-De la Rosa, Vivian W Y Liao

Neurology· July 2025

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GABA receptors in epilepsy: Elucidating phenotypic divergence through functional analysis of genetic variants.
Nathan L Absalom, Susan X N Lin, Vivian W Y Liao, Han C Chua, Rikke S Møller

J Neurochem· December 2024

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Understanding paralogous epilepsy-associated GABA receptor variants: Clinical implications, mechanisms, and potential pitfalls.
Anthony S H Kan, Ali S Kusay, Nazanin A Mohammadi, Susan X N Lin, Vivian W Y Liao, Nathan L Absalom

Proc Natl Acad Sci U S A· December 2024

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Distinct neurodevelopmental and epileptic phenotypes associated with gain- and loss-of-function GABRB2 variants.
Nazanin Azarinejad Mohammadi, Philip Kiær Ahring, Vivian Wan Yu Liao, Han Chow Chua, Sebastián Ortiz de la Rosa, Nathan L Absalom

EBioMedicine· August 2024

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Follow the allosteric transitions to predict variant pathogenicity: a channel-specific approach.
Nathan L Absalom, Serene El-Kamand, Han Chow Chua, Philip K Ahring

Brain· May 2024

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Correlations of receptor desensitization of gain-of-function GABRB3 variants with clinical severity.
Susan X N Lin, Philip K Ahring, Angelo Keramidas, Vivian W Y Liao, Rikke S Møller, Nathan L Absalom

Brain· January 2024

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The de novo GABRA4 p.Thr300Ile variant found in a patient with early-onset intractable epilepsy and neurodevelopmental abnormalities displays gain-of-function traits.
Philip K Ahring, Vivian W Y Liao, Susan Lin, Nathan L Absalom, Mary Chebib

Epilepsia· September 2022

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Gain-of-function and loss-of-function GABRB3 variants lead to distinct clinical phenotypes in patients with developmental and epileptic encephalopathies.
Nathan L Absalom, Vivian W Y Liao, Katrine M H Johannesen, Elena Gardella, Julia Jacobs

Nat Commun· April 2022

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Cannabigerolic acid, a major biosynthetic precursor molecule in cannabis, exhibits divergent effects on seizures in mouse models of epilepsy.
Lyndsey L Anderson, Marika Heblinski, Nathan L Absalom, Nicole A Hawkins, Michael T Bowen

Br J Pharmacol· December 2021

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The anticonvulsant zonisamide positively modulates recombinant and native glycine receptors at clinically relevant concentrations.
Steven O Devenish, Bryony L Winters, Lyndsey L Anderson, Jonathon C Arnold, Iain S McGregor, Nathan L Absalom

Neuropharmacology· January 2021

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Venom-derived modulators of epilepsy-related ion channels.
Chun Yuen Chow, Nathan Absalom, Kimberley Biggs, Glenn F King, Linlin Ma

Biochem Pharmacol· November 2020

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Gain-of-function variants identified in vigabatrin-hypersensitive epileptic encephalopathies.
Nathan L Absalom, Vivian W Y Liao, Kavitha Kothur, Dinesh C Indurthi, Bruce Bennetts

Brain Commun· October 2020

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Ligand-gated ion channels in genetic disorders and the question of efficacy.
Nathan L Absalom, Vivian W Liao, Mary Chebib

Int J Biochem Cell Biol· September 2020

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AE Succinimide, an Analogue of Methyllycaconitine, When Bound Generates a Nonconducting Conformation of the α4β2 Nicotinic Acetylcholine Receptor.
Taima Qudah, Gracia X Quek, Dinesh Indurthi, Nasiara Karim, Jill I Halliday, Nathan Absalom

ACS Chem Neurosci· February 2020

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Coadministered cannabidiol and clobazam: Preclinical evidence for both pharmacodynamic and pharmacokinetic interactions.
Lyndsey L Anderson, Nathan L Absalom, Sarah V Abelev, Ivan K Low, Peter T Doohan

Epilepsia· November 2019

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Functional genomics of epilepsy-associated mutations in the GABA receptor subunits reveal that one mutation impairs function and two are catastrophic.
Nathan L Absalom, Philip K Ahring, Vivian W Liao, Thomas Balle, Tian Jiang

J Biol Chem· April 2019

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Revisiting autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) mutations in the nicotinic acetylcholine receptor reveal an increase in efficacy regardless of stochiometry.
Dinesh C Indurthi, Taima Qudah, Vivian W Liao, Philip K Ahring, Trevor M Lewis, Nathan L Absalom

Pharmacol Res· January 2019

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Investigating the Role of Loop C Hydrophilic Residue 'T244' in the Binding Site of ρ1 GABAC Receptors via Site Mutation and Partial Agonism.
Moawiah M Naffaa, Nathan Absalom, V Raja Solomon, Mary Chebib, David E Hibbs

PLoS One· July 2017

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Kavain, the Major Constituent of the Anxiolytic Kava Extract, Potentiates GABAA Receptors: Functional Characteristics and Molecular Mechanism.
Han Chow Chua, Emilie T H Christensen, Kirsten Hoestgaard-Jensen, Leonny Y Hartiadi, Iqbal Ramzan, Nathan L Absalom

PLoS One· July 2017

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Ligand Binding at the 4-4 Agonist-Binding Site of the 42 nAChR Triggers Receptor Activation through a Pre-Activated Conformational State.
Dinesh C Indurthi, Trevor M Lewis, Philip K Ahring, Thomas Balle, Mary Chebib, Nathan L Absalom

PLoS One· July 2017

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A pharmacological assessment of agonists and modulators at α4β2γ2 and α4β2δ GABAA receptors: The challenge in comparing apples with oranges.
Philip K Ahring, Line H Bang, Marianne L Jensen, Dorte Strøbæk, Leonny Y Hartiadi, Nathan Absalom

Pharmacol Res· September 2016

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The Direct Actions of GABA, 2'-Methoxy-6-Methylflavone and General Anaesthetics at β3γ2L GABAA Receptors: Evidence for Receptors with Different Subunit Stoichiometries.
Han Chow Chua, Nathan L Absalom, Jane R Hanrahan, Raja Viswas, Mary Chebib

PLoS One· June 2016

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Zolpidem is a potent stoichiometry-selective modulator of α1β3 GABAA receptors: evidence of a novel benzodiazepine site in the α1-α1 interface.
Ahmad Tarmizi Che Has, Nathan Absalom, Petra S van Nieuwenhuijzen, Andrew N Clarkson, Philip K Ahring

Sci Rep· June 2016

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High and low GABA sensitivity α4β2δ GABAA receptors are expressed in Xenopus laevis oocytes with divergent stoichiometries.
Leonny Y Hartiadi, Philip K Ahring, Mary Chebib, Nathan L Absalom

Biochem Pharmacol· March 2016

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