Author

Lauren E. Bleakley

The University of MelbourneORCID 0000-0001-5611-6860Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Organism:human· 3 Approach:experimental assay· 2 Approach:statistical model· 2 Research Focus:drug response / drug discovery· 1 Organism:mouse· 1 Research Focus:variant effect prediction· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Christopher A. ReidiD· 3 shared Chaseley E. McKenzieiD· 2 shared Ming S. SohiD· 2 shared A. Marie PhillipsiD· 1 shared Alessandro PorroiD· 1 shared Amitav Parida· 1 shared Andrea SaponaroiD· 1 shared Anna Castellini· 1 shared

Activity by Year

2021-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 24 mutual co-author links

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3 shared papersNeuroscience

Christopher A. ReidORCID

Mutual co-authors in cluster

Author profile →

4 papers

Recent·Most cited

PathologybioRxivPreprintMar 20, 2026

Comprehensive classification of HCN1 variants linked to neurodevelopmental disorders with and without epilepsy

Roberta Castelli, Carla Marini, Alessandro Porro…·Anna Moroni

This study functionally classifies HCN1 variants in patients with neurodevelopmental disorders, finding genotype-phenotype correlations and potential therapeutic targets.

DOI 10.64898/2026.03.18.712601

humanexperimental assay

𝕏 PostBluesky

NeurosciencebioRxivPreprintJan 9, 2024

A precision medicine approach for HCN1 Developmental and Epileptic Encephalopathy

Lauren E. Bleakley, Chaseley E. McKenzie, Da You Zhao…·Christopher A. Reid

This study evaluates the therapeutic potential of Org 34167, an HCN channel inhibitor, for HCN1-DEE using multiple assays, showing efficacy in reducing cation leak and seizures but with side effects.

DOI 10.1101/2024.01.09.574555

mouseexperimental assay

𝕏 PostBluesky

NeurosciencebioRxivPreprintNov 25, 2023

Adaptive functions correlate with evoked neurotransmitter release in SYT1-associated neurodevelopmental disorder

Paul Yangho Park, Lauren E. Bleakley, Nadia Saraya…·Sarah L. Gordon

The paper shows that SYT1 variants impair exocytosis, correlating with neurodevelopmental symptoms, suggesting a genotype-function-phenotype relationship.

3 citations

humanstatistical model

𝕏 PostBluesky

NeurosciencebioRxivPreprintMar 19, 2021

Loss-of-function variants in the cardiac Kv11.1 channel as a genetic biomarker for SUDEP

Ming S. Soh, Richard D. Bagnall, Mark F. Bennett…·Christopher A. Reid

The paper identifies loss-of-function KCNH2 variants as enriched in SUDEP patients compared to epilepsy controls, suggesting a genetic biomarker for SUDEP risk.

1 citation

humanwhole-exome sequencing

𝕏 PostBluesky