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Gaëtan Lesca

University Claude Bernard Lyon and University Hospitals of Lyon

67H-index
443Paper Count
1.5WCitation Count
Published Papers 215
Publication Date
Compound heterozygous SLC12A5 variants expand the molecular and functional spectrum of KCC2-developmental and epileptic encephalopathy
err2026-04-25
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errMira Hamze; Robyn Whitney; Dorothée Ville; Nathalie Villeneuve; Anna-Maria Hartmann; Lisa Becker; Jens Hausmann; Jinwei Zhang; Cathy Brier; Lucie I. Pisella; Perrine Friedel; Audrey Labalme; Eudeline Alix; Nicolas Chatron; Damien Sanlaville; Sylvie Gory-Fauré; Eric Denarier; Christophe Porcher; Gaetan Lesca; Igor Medina
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Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies
err2026-03-30
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errElsa Leitão; Amandine Santini; Benjamin Cogne; Miriam Essid; Maria Athanasiadou; Christy W. LaFlamme; Pierre Marijon; Virginie Bernard; Kevin Jousselin; Nicolas Chatron; Giulia Barcia; Boris Keren; Cyril Mignot; Perrine Charles; Thomas Besnard; Robin Paluch; Jean-Madeleine de Sainte Agathe; Edith P. Almanza Fuerte; Soham Sengupta; Mathieu Milh; Francis Ramond; Talia Allan; Isabelle An; Camila Araujo; Stéphanie Arpin; Christina Austin-Tse; Stéphane Auvin; Sarah Baer; Nadia Bahi-Buisson; Mads Bak; Magalie Barth; Stéphanie Baulac; Nathalie Bednarek-Weirauch; Matthias Begemann; Mark F. Bennett; Uriel Bensabath; Stéphane Bézieau; Rakia Bhouri; Margaux Biehler; Trine Bjørg Hammer; Julie Bogoin; Emilie Bonanno; Simon Boussion; Céline Bris; Adelaide Brosseau-Beauvir; Ange-Line Bruel; Audrey Briand-Suleau; Julien Buratti; Tristan Celse; Pascal Chambon; Nicole Chemaly; Bertrand Chesneau; Estelle Colin; Maxime Colmard; Cindy Colson; Solène Conrad; Thomas Courtin; Isabelle Creveaux; Anne-Charlotte Cullier; Louis T. Dang; Anne de Saint Martin; Caroline de Vanssay de Blavous Legendre; Bénédicte Demeer; Anne-Sophie Denommé-Pichon; Philine Diekhoff; Stephanie DiTroia; Martine Doco-Fenzy; Christèle Dubourg; Charlotte Dubucs; Stéphanie Ducreux; Louis Dufour; Romain Duquet; Benjamin Durand; Salima El Chehadeh; Miriam Elbracht; Laurence Faivre; Marie Faoucher; Anne Faudet; Sylvie Forlani; Mélanie Fradin; Pauline Gaignard; Benjamin Ganne; Aurore Garde; Justine Géraud; Deepak Gill; Alice Goldenberg; David Grabli; Coraline Grisel; Sophie Gueden; Paul Gueguen; Anne-Marie Guerrot; Agnès Guichet; Tobias B. Haack; Nina Härting; Martin Georg Häusler; Solveig Heide; Theresia Herget; Bénédicte Héron; Delphine Héron; Johanna Herwig; Mathilde Heulin; Tess Holling; Clara Houdayer; Bertrand Isidor; Aurélia Jacquette; Louis Januel; Nolwenn Jean-Marçais; Frank J. Kaiser; Sabine Kaya; Chontelle King; Marina Konyukh; Florian Kraft; Jeremias Krause; Rémi Kirstetter; Alma Kuechler; Ingo Kurth; Kerstin Kutsche; Audrey Labalme; Jean-Serene Laloy; Vincent Laugel; Floriane Le Bricquir; Anne-Sophie Lèbre; Marine Lebrun; Eric Leguern; Jonathan Levy; Nico Lieffering; Stanislas Lyonnet; Kevin Lüthy; Sian M. W. Macdonald; Lamisse Mansour-Hendili; Julien Maraval; Iris Marquardt; Carolin Mattausch; Sandra Mercier; Olfa Messaoud; Godelieve Morel; Jérémie Mortreux; Arnold Munnich; Rima Nabbout; Sophie Nambot; Vincent Navarro; Ashana Neale; Laetitia Nguyen; Mathilde Nizon; Frédérique Nowak; Melanie C. O’Leary; Sylvie Odent; Naomi Meave Ojeda; Valérie Olin; Simone Olivieri; Katrin Õunap; Lynn S. Pais; Eleni Panagiotakaki; Olivier Patat; Laurence Perrin-Sabourin; Florence Petit; Christophe Philippe; Amélie Piton; Marc Planes; Céline Poirsier; Antoine Pouzet; Clément Prouteau; Sylvia Quéméner-Redon; Mathilde Renaud; Anne-Claire Richard; Marlène Rio; Clotilde Rivier; Florence Robin-Renaldo; Paul Rollier; Massimiliano Rossi; Agathe Roubertie; Valentin Ruault; Maïlys Rupin-Mas; Pascale Saugier-Veber; Aline Saunier; Russell Saneto; Elisabeth Sarrazin; Catherine Sarret; Elise Schaefer; Caroline Schluth-Bolard; Amy Schneider; Isabell Schumann; Vladimir B. Seplyarskiy; Stephanie Spranger; Thomas Smol; Marc Sturm; Shamil R. Sunyaev; Brian Sperelakis-Beedham; Sarah L. Stenton; Friedrich Stock; Mylène Tharreau; Deniz Torun; Joseph Toulouse; Harshini Thiyagarajah; Stéphanie Valence; Sophie Valleix; Julien Van-Gils; Laurent Villard; Dorothée Ville; Nathalie Villeneuve; Antonio Vitobello; Aurélie Waernessyckle; Jan Wagner; Yvonne Weber; Dagmar Wieczorek; Tom Witkowski; Manya Yadavilli; Tony Yammine; Khaoula Zaafrane-Khachnaoui; Maha S. Zaki; Alban Ziegler; Nuria C. Bramswig; Alban Lermine; Gael Nicolas; Joseph G. Gleeson; Lynette G. Sadleir; Michael S. Hildebrand; Ingrid E. Scheffer; Nicola Whiffin; Anne O’Donnell-Luria; Heather C. Mefford; Pierre Blanc; Julien Thevenon; Camille Charbonnier; Clément Charenton; Christel Depienne; Gaetan Lesca; Caroline Nava
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DNA methylation signature and clinical delineation of PACS1-related disorder in 24 unreported individuals
err2026-03-25
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PREAI
errQuentin Sabbagh; Camille Cenni; Sadegheh Haghshenas; Jean-Luc Alessandri; Mads Bak; Allan Bayat; Mouna Barat-Houari; Alfredo Brusco; Tiffany Busa; Anaïs Calaya; Paige Calvert; Valérie Cormier-Daire; Christine Coubes; Yannis Duffourd; Giovanni B. Ferrero; Anne Guimier; Damien Haye; Tina Duelund Hjortshøj; Laetitia Lambert; Karen Bonde Larsen; Carolyn Lauzon-Young; Gaetan Lesca; Nicolas Chatron; Michael A. Levy; Diego Lopergolo; Henri Margot; Haley McConkey; Pauline Monin; Godelieve Morel; Sophie Naudion; Mathilde Nizon; Sylvie Odent; Lucile Pinson; Linda Pons; Audrey Putoux; Marlène Rio; Massimiliano Rossi; Lucie Rouaux; Flavien Rouxel; Nathalie Ruiz-Pallares; Elodie Sanchez; Stefano Pagano; Filippo M. Santorelli; Clément Sauvestre; Jennifer C. Schymick; Victoria Mok Siu; Marta Spodenkiewicz; Matthew Tedder; Mylène Tharreau; Frédéric Tran Mau-Them; Zeynep Tümer; Irene Valenzuela; Julien Van Gils; Marjolaine Willems; Aron Kirchhoff; Peter Krawitz; Jennifer Kerkhof; Janneke H. M. Schuurs-Hoeijmakers; Bekim Sadikovic; David Geneviève
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Biallelic variants in CELSR1 cause brain malformations, neurodevelopmental disorders and epilepsy in humans
err2026-01-13
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errClaudia M. Bonardi; Rikke S. Møller; Nuria Ruiz-Reig; Guoliang Chai; Camilla G. Madsen; Allan Bayat; Trine B. Hammer; Christina D. Fenger; Elena Gardella; Pawel Gawlinski; Mateusz Dawidziuk; Wojciech Wiszniewski; Monika Bekiesinska-Figatowska; Sara Cabet; Massimiliano Rossi; Gaetan Lesca; Evan Gouy; Birgit Jepsen; Tomasz S. Mieszczanek; Rossana Sanchez Russo; Eileen E. Barr; Katrin Õunap; Pilvi Ilves; Monica H. Wojcik; Mohamed Aittaleb; Klaus Brusgaard; Fadel Tissir; Guido Rubboli
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Correction: GRIN2A null variants confer a high risk for early-onset schizophrenia and other mental disorders and potentially enable precision therapy
err2026-01-07
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errJohannes R. Lemke; Andrea Eoli; Ilona Krey; Bernt Popp; Vincent Strehlow; Dirk A. Wittekind; Anna-Leena Vuorinen; Hesham M. Aldhalaan; Sarah Baer; Anne de Saint Martin; Trine B. Hammer; Isabella Herman; Frauke Hornemann; Trine Ingebrigtsen; Damien Lederer; Gaetan Lesca; Dana Marafie; Mikael Mathot; Jill A. Rosenfeld; Rikke S. Møller; Helenius J. Schelhaas; Chelsey Stillman; Alessandro Orsini; Anup D. Patel; Juliette Piard; Pierangelo Veggiotti; Danique R. M. Vlaskamp; Sarah Weckhuysen; Stephen F. Traynelis; Tim A. Benke; Henrike O. Heyne; Steffen Syrbe
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Missense variants in DPYSL5 associated with neurodevelopmental disorders and brain malformations cause impaired neuronal maturation in vitro
err2025-11-24
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errFlorence Desprez; Solène Remize; Liberty François-Moutal; Dévina C. Ung; Audrey Dangoumau; Sylviane Marouillat; Joanna Kennedy; Karen J. Low; Camille Kumps; Sheila Unger; Boris Keren; Jean-Madeleine de Sainte Agathe; Céline Poirsier; Ghayda M. Mirzaa; Kimberly A. Aldinger; Gaetan Lesca; Valentin Ruault; Candice R. Finnila; Whitley V. Kelley; Donald R. Latner; Sushma N. Guptha; Annabelle Tuttle; Ian Glass; Wendy K. Chung; Jennifer Cassady Hayek; Odile Boute; Aubin Moutal; Médéric Jeanne; Frédéric Laumonnier
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The burden of TTN variants in the genomic era: analysis of 18,462 individuals from the Solve-RD consortium and general recommendations
err2025-11-20
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errMaria Francesca Di Feo; Ida Paramonov; Leslie Matalonga Borrel; Ana Töpf; Alexander Hoischen; Sergi Beltran; Holm Graessner; Lisenka Vissers; Richarda de Voer; Marielle van Gijn; Simona Balestrini; Holger Lerche; Gaëtan Lesca; Swethaa Natraj Gayathri; Kornelia Ellwanger; Mireille Cossee; Aurelien Perrin; Anna Sarkozy; Gisele Bonne; Job A.J. Verdonschot
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Crisis-like Seizure Exacerbations in NPRL3-related Epilepsy: Phenotypic Features and Treatment Outcomes
err2025-11-01
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PREAI
errThormeyer, V.; Meyer, Z.; Polster, T.; Borggraefe, I.; Wallacher, B.; Korenke, G. C.; Catenoix, H.; Panagiotakaki, E.; Wolff, M.; Kluger, G.; Hartlieb, T.; Anke, B.; Leiz, S.; Abou Jamra, R.; Lesca, G.; Kaindl, A.; Schwarz, J. M.; Strehlow, V.; Stoeva, R.; Garde, A.; Faivre, L.; Racine, C.; Schlump, J. U.; Zacher, P.; Latour, P.; Panzer, A.
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GRIN2A null variants confer a high risk for early-onset schizophrenia and other mental disorders and potentially enable precision therapy
err2025-10-14
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errJohannes R. Lemke; Andrea Eoli; Ilona Krey; Bernt Popp; Vincent Strehlow; Dirk A. Wittekind; Anna-Leena Vuorinen; Hesham M. Aldhalaan; Sarah Baer; Anne de Saint Martin; Trine B. Hammer; Isabella Herman; Frauke Hornemann; Trine Ingebrigtsen; Damien Lederer; Gaetan Lesca; Dana Marafie; Mikael Mathot; Jill A. Rosenfeld; Rikke S. Møller; Helenius J. Schelhaas; Chelsey Stillman; Alessandro Orsini; Anup D. Patel; Juliette Piard; Pierangelo Veggiotti; Danique R. M. Vlaskamp; Sarah Weckhuysen; Stephen F. Traynelis; Tim A. Benke; Henrike O. Heyne; Steffen Syrbe
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Genome sequencing for the diagnosis of intellectual disability as a paradigm for rare diseases in the French healthcare setting: the prospective DEFIDIAG study
err2025-10-04
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errSalima El Chehadeh; Solveig Heide; Chloé Quélin; Marlène Rio; Henri Margot; David Geneviève; Bertrand Isidor; Alice Goldenberg; Caroline Guégan; Gaëtan Lesca; Marjolaine Willems; Clothilde Ormières; Roseline Caumes; Tiffany Busa; Dominique Bonneau; Anne-Marie Guerrot; Isabelle Marey; Gabriella Vera; Pauline Marzin; Anaïs Philippe; Aurore Garde; Christine Coubes; Marie Vincent; Vincent Michaud; Cyril Mignot; Perrine Charles; Sabine Sigaudy; Patrick Edery; Didier Lacombe; Anne Boland; Frédérique Nowak; Marion Bouctot; Marie-Laure Humbert-Asensio; Alban Simon; Kirsley Chennen; Niki Sabour; Christelle Delmas; Gaël Nicolas; Pascale Saugier-Veber; François Lecoquierre; Kévin Cassinari; Boris Keren; Thomas Courtin; Jean-Madeleine De Sainte Agathe; Valérie Malan; Giulia Barcia; Frédéric Tran Mau-Them; Hana Safraou; Christophe Philippe; Julien Thévenon; Nicolas Chatron; Louis Januel; Amélie Piton; Virginie Haushalter; Bénédicte Gérard; Catherine Lejeune; Laurence Faivre; Damien Sanlaville; Delphine Héron; Sylvie Odent; Patrick Nitschké; Caroline Schluth-Bolard; Stanislas Lyonnet; Jean-François Deleuze; Christine Binquet; Hélène Dollfus
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A Pleiotropic and Functionally Divergent RAC3 Variant Disrupts Neurodevelopment and Impacts Organogenesis
err2025-09-26
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errRyota Sugawara; Marcello Scala; Sara Cabet; Carine Abel; Louis Januel; Gaetan Lesca; Laurent Guibaud; Frédérique Le Breton; Hiroshi Ueda; Hidenori Tabata; Hidenori Ito; Koh-ichi Nagata
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Differential outcomes in familial and sporadic SCN8A self-limited infantile epilepsies: Insights from a large international registry
err2025-08-18
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PREAI
errFrancesca Furia; Sopio Gverdtsiteli; Wibke Janzarik; Christian Korff; Gaetan Lesca; Maria Margherita Mancardi; Martino Montomoli; Marina Nikanorova; Romina Romaniello; Guido Rubboli; Steffen Syrbe; Federico Vigevano; Rikke S. Møller; Elena Gardella
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The Clinical and Genetic Landscape of a French Multicenter Cohort of 2563 Epilepsy Patients Referred for Genetic Diagnosis
err2025-08-08
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errJean-Madeleine de Sainte Agathe; Pauline Monin; Florence Riccardi; Caroline Nava; Lionel Arnaud; Cyril Mignot; Dorothée Ville; Stéphane Auvin; Sandrine Tardieu; Kathy Larcher; Isabelle Gourfinkel-An; Mathilde Canon; Vincent Navarro; Bénédicte Héron; Sophie Julia; Diane Doummar; Marie-Line Jacquemont; Hélène Maurey; Blandine Dozières-Puyravel; Laurence Perrin; Laurent Pasquier; Christèle Dubourg; Sylvie Odent; Abdelhakim Bouazzaoui; Wilfrid Carre; Mélanie Fradin; Florence Demurger; Nicolas Chatron; Damien Sanlaville; Miriam Essid; Vincent des Portes; Eleni Panagiotakaki; Anne-Lise Poulat; Clotilde Rivier; Catherine Sarret; Ganaëlle Remerand; Cecilia Altuzarra; Radka Stoeva; Sylvie Nguyen; Juliette Piard; Élise Boucher; Vincent Flurin; Anne-Marie Guerrot; Sylvie Joriot; Béatrice Desnous; Nathalie Villeneuve; Anne Lépine; Caroline Hachon-Le Camus; Laurent Villard; Marie Faoucher; Mathieu Milh; Gaëtan Lesca; Éric Leguern
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The Spectrum of Neurologic Phenotypes Associated With NUS1 Pathogenic Variants: A Comprehensive Case Series
err2025-07-01
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errSarah M. Brooker MD, PhD; Maria Novelli MD; Robert Coukos PhD; Neha Prakash MBBS; Walaa A. Kamel MD; Marta Amengual-Gual MD; Mathieu Anheim MD, PhD; Giulia Barcia MD, PhD; Tanya Bardakjian MS; Franciska Baur MD; Steffen Berweck MD; Bigna K. Bölsterli MD; Melanie Brugger MD; Thomas Cassini MD; Nicolas Chatron MD; Brian Corner MS; Hormos Salimi Dafsari MD; Jean-Madeleine de Sainte Agathe MD; Colin A. Ellis MD; Kimberly M. Ezell APRN, FNP; Cendrine Foucard MD; Steven J. Frucht MD; Maria C. Garcia MBBS; Deepak Gill MBBS, FRACP; Anne Guimier MD; Rizwan Hamid MD, PhD; Damià Heine-Suñer PhD; Peter Herkenrath MD; Marie Hully MD; Ioannis U. Isaias MD, PhD; Louis Januel MD; Chloe Laurencin MD; Taylor Laut MS; Alinoe Lavillaureix MD; Gaetan Lesca MD, PhD; Marion Lesieur-Sebellin MD; Luca Magistrelli MD, PhD; Cecilia Marelli MD, PhD; Heather C. Mefford MD, PhD; Bryce A. Mendelsohn MD; Saadet Mercimek-Andrews MD, PhD; Claire Miller MD, PhD; Shekeeb S. Mohammad MBBS, PhD, FRACP; Francesca Morgante MD, PhD; Sirisha Nandipati MD; Thomas Opladen MD; Mahesh Padmanaban MD; Micaela Pauni MD; Gianni Pezzoli MD; Amelie Piton PhD; Francis Ramond MD, PhD; Giulietta M. Riboldi MD, PhD; Christelle Rougeot-Jung MD; Fernando Santos-Simarro MD, PhD; Ingrid E. Scheffer MBBS, PhD; Naoual Serari M2; Christine M. Stahl MD; Ann Stembridge Kung MS; Susana Tarongí Sanchez MD; Christel Thauvin-Robinet MD, PhD; Marianne Till MD; Christine Tranchant MD, PhD; Christopher Troedson MBBS, FRACP; Thomas F. Tropea DO, MPH; Olivier Vanakker MD, PhD; Patricia Vega MD; Maxi Leona Wiese MD; Udo Wieshmann MD, PhD, FRCP; Laura J. Williams MB BCh BAO, MD; Thomas Wirth MD; Michael Zech MD; Hans Zempel MD, PhD; Emmanuel Roze MD, PhD; Vincenzo Leuzzi MD; Serena Galosi MD, PhD; Victor S. C. Fung PhD, FRACP; Gemma Carvill PhD; Dimitri Krainc MD, PhD; Elizabeth Gerard MD; Niccolò E. Mencacci MD, PhD
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Homozygous COQ9 mutation: a new cause of potentially treatable hereditary spastic paraplegia
err2025-06-27
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PREAI
errFanny Fontaine; Audrey Labalme; Chloé Laurencin; Julian Theuriet; Arnaud Jacquier; Nicolas Lacoste; Nathalie Streichenberger; Gaëtan Lesca; Stéphane Allouche
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GABRA2-related encephalopathy: Identification of two phenotypes with distinctive electroclinical features
err2025-06-18
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errMarie Adamo-Croux; Chloé Angelini; Jérôme Aupy; Laurent Villard; Nathalie Villeneuve; Arnaud Chefdor; Yorsa Halleb; Maxime Colmard; Manon Degoutin; Gaetan Lesca; Perrine Charles; Boris Keren; Nicole Chemaly; Cyril Goizet; Mathieu Milh; Claire Bar
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Broadening the phenotype associated with pathogenic variants in the FGF12 gene: From developmental and epileptic encephalopathy to drug-responsive epilepsy with favorable cognitive outcome
err2025-06-09
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errClément Pierret; Florence Riccardi; Julien Neveu; Marie Alesandrini; Cécilia Altuzarra; Sébastien Boulogne; Maryline Carneiro; Nicolas Chatron; Bertrand Isidor; Laure Lacan; Gaëtan Lesca; Sylvie Nguyen; Diana Rodriguez; Sabrine Souci; Stéphanie Valence; Laurent Villard; Mathieu Milh; Béatrice Desnous
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View of healthcare professionals on ultra-rapid genome sequencing and its future implementation in clinical practice for critically ill children
err2025-05-23
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errCaillot, Claire; Javouhey, Etienne; Hays, Stephane; Gouy, Evan; Monin, Pauline; Lesca, Gaetan; Sanlaville, Damien; Chatron, Nicolas
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Clinical and Neurodevelopmental Characteristics of Paralogous Gain-of-Function Variants at GRIA2 p.Gly792 and GRIA3 p.Gly803
err2025-05-20
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errOAAI
errEmilie Sjøstrøm; Dorota Studniarczyk; Xinyao Dou; Rebekka S. Dahl; Vincent Cruz; Heng Wang; Sandra Mercier; Wallid Deb; Thomas Besnard; Jennifer Friedman; Miriam Essid; Sana Karoui; Lamia Ben Jemaa; Thouraya Benyounes; Gaetan Lesca; Davide Tonduti; Maria Iascone; Simona Orcesi; Melanie Fradin; Christèle Dubourg; Silvia Napuri; Stuart G. Cull-Candy; Ian D. Coombs; Mark Farrant; Allan Bayat
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Insights from stereoelectroencephalography in KCNT1-related focal epilepsy suggest a multifocal and migrating epileptogenic network
err2025-04-22
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errZeynep Gokce-Samar; Gaëtan Lesca; Julie Bourgeois-Vionnet; Jean Isnard; Sébastien Boulogne; Luc Valton; Hélène Catenoix
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