Publications by authors named "Jeremie Lefranc"

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Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function.
Reza Asadollahi, Aisha Ahmad, Paranchai Boonsawat, Jasmine Shahanoor Hinzen, Mareike Lohse, Jérémie Lefranc

Nat Genet· November 2025

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Developmental and epileptic encephalopathy 56 due to YWHAG variants: 12 new cases and review of the literature.
Maria Eugenia Amato, Sol Balsells, Loreto Martorell, Adrián Alcalá San Martín, Karen Ansell, Jeremie Lefranc

Eur J Paediatr Neurol· November 2024

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Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes.
Berardo Rinaldi, Allan Bayat, Linda G Zachariassen, Jia-Hui Sun, Yu-Han Ge, Jérémie Lefranc

Brain· May 2024

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Long-term follow-up of 64 children with classical infantile-onset Pompe disease since 2004: A French real-life observational study.
Marine Tardieu, Céline Cudejko, Aline Cano, Célia Hoebeke, Delphine Bernoux, Jérémie Lefranc

Eur J Neurol· September 2023

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Early Seizure Recurrence in Children Admitted for Nonfebrile Seizures in the Emergency Department: A Prospective Study.
Juliette Ropars, Elise Sacaze, Lydie Abalea, Sylviane Peudenier, Philippe Vic, Jeremie Lefranc

Neuropediatrics· December 2022

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Molecular and clinical descriptions of patients with GABA receptor gene variants (GABRA1, GABRB2, GABRB3, GABRG2): A cohort study, review of literature, and genotype-phenotype correlation.
Pierre-Yves Maillard, Sarah Baer, Élise Schaefer, Béatrice Desnous, Nathalie Villeneuve, Jérémie Lefranc

Epilepsia· October 2022

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MECP2 Dysautonomia Phenotypes in Boys.
Lisa Courgeon, Kévin Uguen, Jérémie Lefranc, Gaetan Lesca, Juliette Ropars

Pediatr Neurol· September 2022

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West Syndrome Is an Exceptional Presentation of Pyridoxine- and Pyridoxal Phosphate-Dependent Epilepsy: Data From a French Cohort and Review of the Literature.
Marc Gibaud, Magalie Barth, Jérémie Lefranc, Karine Mention, Nathalie Villeneuve

Front Pediatr· March 2021

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Real-life use of videos in pediatric epilepsy consultations.
Blandine Dozières-Puyravel, Louis Dufour, Caroline Hachon Le Camus, Marie-Thérèse Abi Warde, Claude Cances, Jérémie Lefranc

Epilepsy Behav· January 2021

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Palliative Care in SMA Type 1: A Prospective Multicenter French Study Based on Parents' Reports.
Marie Hully, Christine Barnerias, Delphine Chabalier, Sophie Le Guen, Virginie Germa, Jeremie Lefranc

Front Pediatr· February 2020

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Clinical study of 19 patients with SCN8A-related epilepsy: Two modes of onset regarding EEG and seizures.
Julien Denis, Nathalie Villeneuve, Pierre Cacciagli, Cecile Mignon-Ravix, Caroline Lacoste, Jeremie Lefranc

Epilepsia· May 2019

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Anti-tumor necrosis factor alpha therapy (adalimumab) in Rasmussen's encephalitis: An open pilot study.
Stanislas Lagarde, Nathalie Villeneuve, Agnès Trébuchon, Elsa Kaphan, Anne Lepine, Jérémie Lefranc

Epilepsia· June 2016

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Multimodal Outcome at 7 Years of Age after Neonatal Arterial Ischemic Stroke.
Stéphane Chabrier, Emeline Peyric, Laure Drutel, Johanna Deron, Manoëlle Kossorotoff, Jérémie Lefranc

J Pediatr· May 2016

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Actigraphy is not a reliable method for measuring sleep patterns in neonates.
Stéphane Rioualen, Jean-Michel Roué, Jérémie Lefranc, Maëlenn Gouillou, Emmanuel Nowak

Acta Paediatr· November 2015

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WWOX-related encephalopathies: delineation of the phenotypical spectrum and emerging genotype-phenotype correlation.
Cyril Mignot, Laetitia Lambert, Laurent Pasquier, Thierry Bienvenu, Andrée Delahaye-Duriez, Jérémie Lefranc

J Med Genet· January 2015

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Determining the technical and clinical factors associated with pain for children undergoing botulinum toxin injections under nitrous oxide and anesthetic cream.
Sylvain Brochard, Virginia Blajan, Mathieu Lempereur, Ronan Garlantezec, Laetitia Houx, Jérémie Lefranc

Eur J Paediatr Neurol· July 2011

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