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Nature Genetics|October 23, 2012
De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancyGiulia Barcia, Matthew R Fleming, Aline Deligniere, et al.
Human Mutation|November 5, 2019
Clinical, neuroimaging and biochemical findings in patients and patient fibroblasts expressing ten novel GFM1 mutationsGiulia Barcia, Marlène Rio, Zahra Assouline, et al.
Epilepsia Open|May 10, 2025
Genetic etiologies with a large NGS panel in a monocentric cohort of 1000 patients with pediatric onset epilepsiesGiulia Barcia, Nicole Chemaly, Stéphanie Gobin-Limballe, et al.
Neuromuscular Disorders : NMD|January 2, 2019
Spinal muscular atrophy with respiratory distress type 1: A multicenter retrospective studyAgnès Viguier, Valérie Lauwers-Cances, Pascal Cintas, et al.
Journal of Neuromuscular Diseases|November 18, 2016
Non Random Distribution of DMD Deletion Breakpoints and Implication of Double Strand Breaks Repair and Replication Error Repair MechanismsIsabelle Marey, Rabah Ben Yaou, Nathalie Deburgrave, et al.
Orphanet Journal of Rare Diseases|March 29, 2012
Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patientLydie Burglen, Sandra Chantot-Bastaraud, Catherine Garel, et al.
Brain Communications|November 3, 2022
Periodic electroencephalographic discharges and epileptic spasms involve cortico-striatal-thalamic loops on Arterial Spin Labeling Magnetic Resonance ImagingMonika Eisermann, Ludovic Fillon, Ana Saitovitch, et al.
Epilepsy & Behavior : E&B|January 16, 2019
How can transition to adult care be best orchestrated for adolescents with epilepsy?Peter R Camfield, Danielle Andrade, Carole S Camfield, et al.
Euro Surveillance : Bulletin Europeen Sur Les Maladies Transmissibles = European Communicable Disease Bulletin|June 1, 2023
Severe and fatal neonatal infections linked to a new variant of echovirus 11, France, July 2022 to April 2023Mathilde Grapin, Audrey Mirand, Didier Pinquier, et al.
European Journal of Human Genetics : EJHG|January 10, 2013
Genetic and clinical specificity of 26 symptomatic carriers for dystrophinopathies at pediatric ageSandra Mercier, Annick Toutain, Aurélie Toussaint, et al.
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