Gaëtan Lesca

72PUBLICATIONS
730CO-AUTHORS
Genomics and transcriptomicsInfant and child healthEpigenetics (incl. genome methylation and epigenomics)Neurology and neuromuscular diseasesNeurogenetics
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Publications (72)

|Jun 26, 2026
Decoding splicing variants in high-throughput sequencing: a functional validation approach integrating deep learning tools.

|May 26, 2026
Burst-Suppression EEG in Early Infantile Developmental and Epileptic Encephalopathies: Phenotype, Genotype, and Outcome.

|Apr 25, 2026
Compound heterozygous SLC12A5 variants expand the molecular and functional spectrum of KCC2-developmental and epileptic encephalopathy.

|Mar 30, 2026
Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies.

Elsa Leitão, Amandine Santini, Benjamin Cogne

|Mar 26, 2026
DNA methylation signature and clinical delineation of PACS1-related disorder in 24 unreported individuals.

Quentin Sabbagh, Camille Cenni, Sadegheh Haghshenas

|Mar 12, 2026
Missense Variants in the A Isoform of FGF13 as a Novel Cause of Paroxysmal Dyskinesia.

Cyril Mignot, Matthildi Athina Papathanasiou Terzi, Claudia Ravelli

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Frequent Collaborators

17 joint publications

Nicolas Chatron

12 joint publications

Rikke Steensbjerre Møller

8 joint publications

Elena Gardella

8 joint publications

Dorothée Ville