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Epilepsia|October 31, 2015
Epileptic patients with de novo STXBP1 mutations: Key clinical features based on 24 casesChloé Di Meglio, Gaetan Lesca, Nathalie Villeneuve, et al.
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie|January 28, 2025
Evaluation of professional practices in the use of mexiletine for the management of childhood myotonia in French pediatric neuromuscular centers (MEXI-PEDI survey)Sarah Barrière, Véronique Manel, Christine Barnerias, et al.
American Journal of Human Genetics|July 5, 2014
Mutations in SLC13A5 cause autosomal-recessive epileptic encephalopathy with seizure onset in the first days of lifeJulien Thevenon, Mathieu Milh, François Feillet, et al.
Orphanet Journal of Rare Diseases|June 14, 2020
Effects of nusinersen after one year of treatment in 123 children with SMA type 1 or 2: a French real-life observational studyFrédérique Audic, Marta Gomez Garcia de la Banda, Delphine Bernoux, et al.
Orphanet Journal of Rare Diseases|September 13, 2024
Real-world multidisciplinary outcomes of onasemnogene abeparvovec monotherapy in patients with spinal muscular atrophy type 1: experience of the French cohort in the first three years of treatmentIsabelle Desguerre, Rémi Barrois, Frédérique Audic, et al.
Molecular Genetics and Metabolism Reports|October 29, 2021
The diagnostic rate of inherited metabolic disorders by exome sequencing in a cohort of 547 individuals with developmental disordersJulian Delanne, Ange-Line Bruel, Frédéric Huet, et al.
Brain : a Journal of Neurology|May 15, 2023
The emerging spectrum of fetal acetylcholine receptor antibody-related disorders (FARAD)Nicholas M Allen, Mark O'Rahelly, Bruno Eymard, et al.
Nature Genetics|April 2, 2014
Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signalingGillian I Rice, Yoandris Del Toro Duany, Emma M Jenkinson, et al.
Neurology|May 26, 2026
Burst-Suppression EEG in Early Infantile Developmental and Epileptic Encephalopathies: Phenotype, Genotype, and OutcomeFlorence Riccardi, Béatrice Desnous, Emilie Borloz, et al.
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