Author

Anne Fabienne Lepine

Hôpital de la TimoneORCID 0000-0002-9844-9687Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genomics· 1 Neuroscience· 1

Signature Assays, Organisms & Methods

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Organism:human· 2 Assay:bulk RNA-seq· 1 Research Focus:differential expression· 1 Research Focus:drug response / drug discovery· 1 Assay:electronic health records· 1 Approach:experimental assay· 1 Organism:mouse· 1 Approach:statistical model· 1

Frequent Co-Authors

Adam FrankishiD· 1 shared Agnès TrébuchoniD· 1 shared Alba Sanchis‐JuaniD· 1 shared Andrew C. MerceriD· 1 shared Angélique PeretiD· 1 shared Anthony S. RogersiD· 1 shared April R. Giles· 1 shared Barbara Uszczyńska-RatajczakiD· 1 shared

Activity by Year

2019-2023 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 21 mutual co-author links

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1 shared paperGenomics

Adam FrankishORCID

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2 papers

Recent·Most cited

GluK2 is a target for gene therapy in drug-resistant Temporal Lobe Epilepsy

Céline Boileau, Séverine Deforges, Angélique Peret, Didier Scavarda, Fabrice Bartoloméi, April R. Giles, Nicolas Partouche, Justine Gautron, Julio Viotti, Haley N. Janowitz, Guillaume Penchet, Cécile Marchal, Stanislas Lagarde, Agnès Trébuchon, Nathalie Villeneuve, , Valérie Crépel

This study demonstrates that gene therapy targeting GluK2 reduces seizures in TLE models and patient-derived slices.

Annals of Neurology · Jun 21, 2023Peer-reviewedNeuroscience

Systematic re-annotation of 191 genes associated with early-onset epilepsy unmasks de novo variants linked to Dravet syndrome in novel SCN1A exons

Charles A. Steward, Jolien Roovers, Marie‐Marthe Suner, José M. González, Barbara Uszczyńska-Ratajczak, Dmitri Davidovich Pervouchine, Stephen F. Fitzgerald, Margarida Viola, Hannah Stamberger, Fadi F. Hamdan, Berten Ceulemans, Patricia Leroy, Caroline Nava, Anne Fabienne Lepine, Electra Tapanari, , Adam Frankish

The paper updates gene annotations for 191 epilepsy genes, reclassifying variants and identifying new de novo SCN1A variants in Dravet syndrome patients.

bioRxiv · May 30, 2019 · PreprintGenomics