Gaëtan Lesca - Dissemin

Papers authored by Gaëtan Lesca

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2018 Pauline Marzin

, Cyril Mignot, Nathalie Dorison, Louis Dufour, Dorothée Ville, Anna Kaminska, Eleni Panagiotakaki, Anne-Sophie Dienpendaele, Marie-José Penniello, Marie-Christine Nougues, Boris Keren, Christel Depienne, Caroline Nava, Mathieu Milh, Laurent Villard and 6 other authors

Early-onset encephalopathy with paroxysmal movement disorders and epileptic seizures without hemiplegic attacks: About three children with novel ATP1A3 mutations

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Cyril Mignot, Aoife C. McMahon, Claire Bar, Philippe M. Campeau, Claire Davidson

, Julien Buratti, Marie-Line Jacquemont, McMahon Ac, Caroline Nava, Marilyn Tallot, Mathieu Milh, Claude Besmond, Patrick Edery, Thierry Bienvenu, Ange-Line Bruel and 74 other authors

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Sara Baldassari, Fabienne Picard, Nienke E. Verbeek, Marjan van Kempen, Eva H. Brilstra, Gaetan Lesca

, Valerio Conti, Renzo Guerrini, Francesca Bisulli, Laura Licchetta, Tommaso Pippucci, Paolo Tinuper, Edouard Hirsch, Anne de Saint Martin, Jamel Chelly and 73 other authors

The landscape of epilepsy-related GATOR1 variants

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Linda Pons, Gaëtan Lesca

, Damien Sanlaville, Nicolas Chatron, Audrey Labalme, Véronique Manel, Alexis Arzimanoglou, Julitta de Bellescize, Laurence Lion-François

Neonatal tremor episodes and hyperekplexia-like presentation at onset in a child with SCN8A developmental and epileptic encephalopathy

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T. Michael Yates

, Mohnish Suri, Archana Desurkar, Gaetan Lesca

, Carina Wallgren-Pettersson, Trine B. Hammer

, Ashok Raghavan, Anne-Lise Poulat, Rikke S. Møller, Ann-Charlotte Thuresson, Meena Balasubramanian

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Alice Poisson, Nicolas Chatron

, Audrey Labalme, Marianne Till, Emmanuel Broussolle, Damien Sanlaville, Caroline Demily, Gaetan Lesca

Regressive Autism Spectrum Disorder Expands the Phenotype of BSCL2/Seipin-Associated Neurodegeneration

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Marie-Laure Mathieu, Julitta de Bellescize, Marianne Till, Vincent Flurin, Audrey Labalme, Nicolas Chatron, Damien Sanlaville, Nicole Chemaly, Vincent des Portes, Karine Ostrowsky, Alexis Arzimanoglou, Gaëtan Lesca

Electrical status epilepticus in sleep, a constitutive feature of Christianson syndrome?

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S. Baer

, A. Afenjar, T. Smol, A. Piton, B. Gérard, Y. Alembik, T. Bienvenu

, G. Boursier, O. Boute, C. Colson, M.‐P-P. Cordier, V. Cormier-Daire, B. Delobel, M. Doco-Fenzy, B. Duban-Bedu and 27 other authors

Wiedemann-Steiner syndrome as a major cause of syndromic intellectual disability: A study of 33 French cases

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Claire Guissart, Xenia Latypova, Paul Rollier, Tahir N. Khan, Hannah Stamberger, Kirsty McWalter, Megan T. Cho, Susanne Kjaergaard, Sarah Weckhuysen, Gaetan Lesca

, Thomas Besnard

, Katrin Õunap, Lynn Schema, Andreas G. Chiocchetti

, Marie McDonald and 44 other authors

Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia

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Heather E. Olson, Edward Yang, Katrina Tatton-Brown, Paul A. van der Zwaag, Nolwenn Jean-Marçais, Margje Sinnema, Margot R. F. Reijnders, Delphine Heron, Aida Telegrafi, Roelineke J. Lunsing, Emilia K. Bijlsma, Lacey A. Smith, Bryan L. Krock, E. Backer, Beth R. Sheidley and 43 other authors

A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis

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Nicolas Chatron, Rikke S. Møller, Neena L. Champaigne, Amy L. Schneider, Alma Kuechler, Audrey Labalme, Thomas Simonet, Lauren Baggett, Claire Bardel, Erik‐Jan Kamsteeg, Rolph Pfundt, Corrado Romano

, Johan Aronsson, Antonino Alberti, Mirella Vinci and 12 other authors

The epilepsy phenotypic spectrum associated with a recurrent CUX2 variant

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Marguerite Miguet, Laurence Faivre, Jeanne Amiel, Mathilde Nizon, Renaud Touraine, Fabienne Prieur, Laurent Pasquier, Mathilde Lefebvre, Julien Thevenon, Christèle Dubourg, Sophie Julia, Catherine Sarret, Ganaëlle Remerand, Christine Francannet, Fanny Laffargue and 72 other authors

Further delineation of theMECP2duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features

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Caroline Demily, Gaétan Lesca

, Alice Poisson, Marianne Till, Giulia Barcia, Nicolas Chatron, Damien Sanlaville, Arnold Munnich

Additive Effect of Variably Penetrant 22q11.2 Duplication and Pathogenic Mutations in Autism Spectrum Disorder: To Which Extent Does the Tree Hide the Forest?

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Julie Coton, Audrey Labalme, Marianne Till, Gerald Bussy, Sonia Krifi Papoz, Gaetan Lesca

, Delphine Heron, Damien Sanlaville, Patrick Edery, Vincent des Portes, Massimiliano Rossi

Characterization of two familial cases presenting with a syndromic specific learning disorder and carrying (17q;21q) unbalanced translocations

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Thomas Smol, Florence Petit, Amélie Piton, Boris Keren, E. Boudry-Labis, S. Bouquillon, O. Boute-Benejean, Damien Sanlaville, R. Caumes, N. Chatron, Alexandra Afenjar, C. Colson, C. Coubes, C. Coutton, S. Baker and 51 other authors

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Katrine M. Johannesen, Elena Gardella, Tarja Linnankivi, Carolina Courage, Anne de Saint Martin, Anna‐Elina Lehesjoki, Cyril Mignot, Alexandra Afenjar, Gaetan Lesca

, Marie‐Thérèse Abi‐Warde, Jamel Chelly, Amélie Piton, J. Lawrence Merritt, Lance H. Rodan, Wen‐Hann Tan and 37 other authors

Defining the phenotypic spectrum of SLC6A1 mutations

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Lucie Gueneau, Richard J. Fish, Hanan E. Shamseldin, Norine Voisin, Egle Preiksaitiene, Frédéric Tran Mau-Them

, Glen R. Monroe, Angeline Lai, Audrey Putoux

, Fabienne Allias, Qamariya Ambusaidi, Laima Ambrozaityte, Loreta Cimbalistienė, Julien Delafontaine, Nicolas Guex

and 24 other authors

KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis

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Anne-Laure Renault, Catherine Dubois d'Enghien, Hélène Zattara, Dominique Stoppa-Lyonnet, Renault Al, Noura Mebirouk, Alain Lortholary, Michel Longy, Eve Cavaciuti, Dorothée Le Gal, Julie Lecarpentier, d'Enghien Cd, Laurence Faivre, Anthony Lauge, Brigitte Gilbert-Dussardier and 18 other authors

Telomere length, ATM mutation status and cancer risk in Ataxia-Telangiectasia families

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2017 Cecilia Marelli, Foudil Lamari, Dominique Rainteau, Alexandre Lafourcade, Guillaume Banneau, Lydie Humbert, Marie-Lorraine Monin, Elodie Petit, Rabab Debs, Giovanni Castelnovo, Elisabeth Ollagnon, Julie Lavie, Julie Pilliod, Isabelle Coupry, Patrick J. Babin and 14 other authors

Plasma oxysterols: biomarkers for diagnosis and treatment in spastic paraplegia type 5

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Sébastien Küry, Geeske M. van Woerden, Martina Proietti Onori, Martina Proietti Onori, Thomas Besnard

, Xénia Latypova, Meghan C. Towne, Megan T. Cho, S. Kury, Trine E. Prescott, Melissa A. Ploeg, Stephan Sanders, Holly A. F. Stessman, Aurora Pujol, Ben Distel and 91 other authors

De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability

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Papers authored by Gaëtan Lesca