Author

Nathalie Couque

Assistance Publique – Hôpitaux de ParisORCID 0000-0002-5109-0857Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1 Pathology· 1

Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:experimental assay· 1 Approach:statistical model· 1

Frequent Co-Authors

Alena Jahodová· 1 shared Alessandro PorroiD· 1 shared Allan BayatiD· 1 shared Allyn McConkie‐RoselliD· 1 shared Amitav Parida· 1 shared Andrea Paras· 1 shared Andrea SaponaroiD· 1 shared Anita DattaiD· 1 shared

Activity by Year

2022-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 21 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Alena Jahodová

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2 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

Genetic & Genomic MedicinemedRxivPreprintApr 26, 2022

Missense variants in the voltage sensing and pore domain of KCNH5 cause neurodevelopmental phenotypes including epilepsy

Hannah C. Happ, Lynette Grant Sadleir, Matthew Zemel…·Gemma L. Carvill

The paper reports a cohort of 17 patients with pathogenic KCNH5 variants causing neurodevelopmental disorders and epilepsy, identifying genotype-phenotype correlations.

DOI 10.1101/2022.04.26.22274147

humanstatistical model

𝕏 PostBluesky