From spastic paraplegia to infantile neurodegenerative disorder: Expanding the phenotypic spectrum associated with biallelic SPAST variants
Manon Degoutin, Chloé Angelini, Claire Bar, Wahiba Amer El Khedoud, Christine Barnerias, Razika Boulariah‐Hadjou, Mehrdad A. Estiar, Claire Ewenczyk, Ziv Gan‐Or, Didier Lacombe, Claire Lefeuvre, Purvi Majethia, Mouna Messaoud‐Khelifi, Dhanya Lakshmi Narayanan, Guy A. Rouleau, Oksana Suchowersky, Anju Shukla, Marine Guillaud‐Bataille, Giovanni Stevanin, Cyril Goizet
Euro J of Neurology. 2024-12-27
10.1111/ene.70025

Care pathways in childhood neurodevelopmental disorders: Toward greater awareness of KBG syndrome among pediatricians
Marie Adamo-Croux, Adriane Auger-Gilli, Gwenaël Le Guyader, Juliette Aubin-Courjault, Henri Margot, Claire Bar, Didier Lacombe, Julien Van-Gils, Marine Legendre, Aurélien Binet, Xavier Le Guillou Horn
Archives de Pédiatrie. 2024-07-01
10.1016/j.arcped.2024.02.007

Arterial Spin-Labeling Perfusion Imaging in the Early Stage of Sturge-Weber Syndrome
G. Pouliquen, L. Fillon, V. Dangouloff-Ros, M. Kuchenbuch, C. Bar, N. Chemaly, R. Levy, C.-J. Roux, A. Saitovitch, J. Boisgontier, R. Nabbout, N. Boddaert
AJNR Am J Neuroradiol. 2022-09-22
10.3174/ajnr.A7643

Developmental and epilepsy spectrum of KCNB1 encephalopathy with long‐term outcome
Claire Bar, Mathieu Kuchenbuch, Giulia Barcia, Amy Schneider, Mélanie Jennesson, Gwenaël Le Guyader, Gaetan Lesca, Cyril Mignot, Martino Montomoli, Elena Parrini, Hervé Isnard, Anne Rolland, Boris Keren, Alexandra Afenjar, Nathalie Dorison, Lynette G. Sadleir, Delphine Breuillard, Raphael Levy, Marlène Rio, Sophie Dupont, Susanna Negrin, Alberto Danieli, Emmanuel Scalais, Anne De Saint Martin, Salima El Chehadeh, Jamel Chelly, Alice Poisson, Anne‐Sophie Lebre, Anca Nica, Sylvie Odent, Tayeb Sekhara, Vesna Brankovic, Alice Goldenberg, Pascal Vrielynck, Damien Lederer, Hélène Maurey, Gaetano Terrone, Claude Besmond, Laurence Hubert, Patrick Berquin, Thierry Billette de Villemeur, Bertrand Isidor, Jeremy L. Freeman, Heather C. Mefford, Candace T. Myers, Katherine B. Howell, Andrés Rodríguez‐Sacristán Cascajo, Pierre Meyer, David Genevieve, Agnès Guët, Diane Doummar, Julien Durigneux, Marieke F. van Dooren, Marie Claire Y. de Wit, Marion Gerard, Isabelle Marey, Arnold Munnich, Renzo Guerrini, Ingrid E. Scheffer, Edor Kabashi, Rima Nabbout
Epilepsia. 2020-09-21
10.1111/epi.16679

Expanding the genetic and phenotypic relevance of KCNB1 variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literature
Claire Bar, Giulia Barcia, Mélanie Jennesson, Gwenaël Le Guyader, Amy Schneider, Cyril Mignot, Gaetan Lesca, Delphine Breuillard, Martino Montomoli, Boris Keren, Diane Doummar, Thierry Billette de Villemeur, Alexandra Afenjar, Isabelle Marey, Marion Gerard, Hervé Isnard, Alice Poisson, Sophie Dupont, Patrick Berquin, Pierre Meyer, David Genevieve, Anne De Saint Martin, Salima El Chehadeh, Jamel Chelly, Agnès Guët, Emmanuel Scalais, Nathalie Dorison, Candace T. Myers, Heather C. Mefford, Katherine B. Howell, Carla Marini, Jeremy L. Freeman, Anca Nica, Gaetano Terrone, Tayeb Sekhara, Anne‐Sophie Lebre, Sylvie Odent, Lynette G. Sadleir, Arnold Munnich, Renzo Guerrini, Ingrid E. Scheffer, Edor Kabashi, Rima Nabbout
Human Mutation. 2019-10-04
10.1002/humu.23915