Nathan L. Absalom

94 Mallett Street
Camperdown, NSW 2050, Australia

Last Updated: 09/26/2026

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Found 38 publications

Accurate prediction of gain- and loss-of-function missense variants in GABAA receptors.

Accurate prediction of gain- and loss-of-function missense variants in GABAA receptors.

Journal: EBioMedicine

Published: January 05, 2026

Predictive value of seizure onset for gross motor dysfunction in individuals with pathogenic GABRB2 and GABRB3 variants.

Predictive value of seizure onset for gross motor dysfunction in individuals with pathogenic GABRB2 and GABRB3 variants.

Journal: Epilepsia

Published: October 02, 2025

Phenotypic Spectrum in Individuals With Pathogenic GABRG2 Loss- and Gain-of-Function Variants.

Phenotypic Spectrum in Individuals With Pathogenic GABRG2 Loss- and Gain-of-Function Variants.

Journal: Neurology

Published: June 26, 2025

Functional consequence of pathogenic GABRA3 variants determines whether X-linked inheritance is dominant or recessive.

Functional consequence of pathogenic GABRA3 variants determines whether X-linked inheritance is dominant or recessive.

Journal: The Journal of clinical investigation

Published: December 17, 2024

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

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

Journal: Proceedings of the National Academy of Sciences of the United States of America

Published: December 06, 2024

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

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

Journal: EBioMedicine

Published: January 05, 2024

Follow the allosteric transitions to predict variant pathogenicity: a channel-specific approach.

Follow the allosteric transitions to predict variant pathogenicity: a channel-specific approach.

Journal: Brain : a journal of neurology

Published: October 24, 2023

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

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

Journal: Journal of neurochemistry

Published: May 21, 2023

Correlations of receptor desensitization of gain-of-function GABRB3 variants with clinical severity.

Correlations of receptor desensitization of gain-of-function GABRB3 variants with clinical severity.

Journal: Brain : a journal of neurology

Published: December 28, 2022

The de novo GABRA4 p.Thr300Ile variant found in a patient with early-onset intractable epilepsy and neurodevelopmental abnormalities displays gain-of-function traits.

The de novo GABRA4 p.Thr300Ile variant found in a patient with early-onset intractable epilepsy and neurodevelopmental abnormalities displays gain-of-function traits.

Journal: Epilepsia

Published: May 06, 2022

Gain-of-function and loss-of-function GABRB3 variants lead to distinct clinical phenotypes in patients with developmental and epileptic encephalopathies.

Gain-of-function and loss-of-function GABRB3 variants lead to distinct clinical phenotypes in patients with developmental and epileptic encephalopathies.

Journal: Nature communications

Published: October 01, 2021

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

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

Journal: British journal of pharmacology

Published: June 18, 2021

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Last Updated: 09/26/2026