Author

Susan X. N. Lin

Observed names: Lin, Susan X N, Susan Lin, Susan X N Lin, Susan X.N. Lin

Institutions: University of Copenhagen, The University of Sydney

Observed institutions: University of Copenhagen, The University of Sydney

ORCID: 0000-0003-3587-0957

Observed ORCID: 0000-0003-3587-0957

OpenAlex ID: A5014449773

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

2023 · Nathan L. Absalom, Susan X. N. Lin, et al. · Journal of Neurochemistry · 35

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

2024 · Anthony S. H. Kan, Ali S. Kusay, et al. · Proceedings of the National Academy of Sciences · 19

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

2022 · Philip K. Ahring, Vivian W. Y. Liao, et al. · Epilepsia · 17

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

2025 · Alessandra Rossi, Susan X. N. Lin, et al. · Neurology · 11

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

2023 · Susan X N Lin, Philip K Ahring, et al. · Brain · 11

Early neurological symptoms and epilepsy outcomes in individuals with the recurrent GABRG2 p.( Ala106Thr ) gain‐of‐function variant: Structural and phenotypic insights

2025 · Sebastian Ortiz, Chiara Bagliani, et al. · Epilepsia · 1

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

2026 · Christian M. Boßelmann, Sebastian Ortiz, et al. · EBioMedicine

Collapse of feed-forward inhibition underpins hyperexcitability in GABAA receptor gain-of-function epilepsy

2026 · Chaseley E McKenzie, Khaing Phyu Aung, et al. · Brain

Accurate prediction of gain- and loss-of-function variants in GABA A receptors

2025 · Christian M. Boßelmann, Sebastian Ortiz, et al. · medRxiv

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

2025 · Rossi, Alessandra, Lin, Susan X N, et al. · Zurich Open Repository and Archive (University of Zurich)

Works count: 10

Citation count: 94

H-index: 5

I10-index: 5