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European Journal of Medical Genetics|May 26, 2022
Defining causal variants in rare epilepsies: an essential team effort between biomedical scientists, geneticists and epileptologistsAmy McTague, Andreas Brunklaus, Giulia Barcia, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 27, 2021
Deep phenotyping unstructured data mining in an extensive pediatric database to unravel a common KCNA2 variant in neurodevelopmental syndromesMarie Hully, Tommaso Lo Barco, Anna Kaminska, et al.
Orphanet Journal of Rare Diseases|November 15, 2013
Encephalopathy in children with Dravet syndrome is not a pure consequence of epilepsyRima Nabbout, Nicole Chemaly, Mathilde Chipaux, et al.
European Journal of Medical Genetics|October 18, 2024
Exploring the clinical spectrum of CNTNAP2-related neurodevelopmental disorders: A case series and a literature appraisalGiulia Barcia, Giovanna Scorrano, Marlène Rio, et al.
Epilepsia Open|March 15, 2019
Autism spectrum disorder and cognitive profile in children with Dravet syndrome: Delineation of a specific phenotypeLisa Ouss, Dorothee Leunen, Jacques Laschet, et al.
European Journal of Medical Genetics|March 14, 2018
Pitfalls in molecular diagnosis of Friedreich ataxiaGiulia Barcia, Myriam Rachid, Maryse Magen, et al.
European Journal of Medical Genetics|November 6, 2013
Early epileptic encephalopathies associated with STXBP1 mutations: Could we better delineate the phenotype?Giulia Barcia, Nicole Chemaly, Stephanie Gobin, et al.
European Journal of Neurology|April 13, 2023
Clinical and radiological description of 120 pediatric stroke-like episodesChloe Durrleman, David Grevent, Melodie Aubart, et al.
Molecular Genetics and Metabolism|May 11, 2021
Phenotypic diversity of brain MRI patterns in mitochondrial aminoacyl-tRNA synthetase mutationsCharles-Joris Roux, Giulia Barcia, Manuel Schiff, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|June 4, 2018
PLA2G6-associated neurodegeneration: Lessons from neurophysiological findingsCyril Gitiaux, Anna Kaminska, Nathalie Boddaert, et al.
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