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Orphanet Journal of Rare Diseases|May 23, 2013
Similar early characteristics but variable neurological outcome of patients with a de novo mutation of KCNQ2Mathieu Milh, Nadia Boutry-Kryza, Julie Sutera-Sardo, et al.
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.
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.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 21, 2019
Correction: The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literatureJuliette Piard, Lara Hawkes, Mathieu Milh, et al.
Human Molecular Genetics|January 10, 2020
Adaptor protein complex 4 deficiency: a paradigm of childhood-onset hereditary spastic paraplegia caused by defective protein traffickingRobert Behne, Julian Teinert, Miriam Wimmer, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 26, 2018
The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literatureJuliette Piard, Lara Hawkes, Mathieu Milh, et al.
BMJ Open|February 26, 2025
Sodium valproate, a potential repurposed treatment for the neurodegeneration in Wolfram syndrome (TREATWOLFRAM): trial protocol for a pivotal multicentre, randomised double-blind controlled trialRenuka P Dias, Kristian Brock, Kun Hu, et al.
European Journal of Medical Genetics|July 21, 2015
From splitting GLUT1 deficiency syndromes to overlapping phenotypesMarie Hully, Sandrine Vuillaumier-Barrot, Christiane Le Bizec, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|May 1, 2026
Distinct Brain Drivers and Shared Cerebello-Cortical Input in ADCY5 and SGCE Hyperkinetic MovementsClément Tarrano, Cécile Galléa, Asya Ekmen, et al.
Neurology|April 19, 2023
Prospective Multicenter Validation of a Simple Blood Test for the Diagnosis of Glut1 Deficiency SyndromeFanny Mochel, Domitille Gras, Marie-Pierre Luton, et al.
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