Publications by authors named "E Sarrazin"

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Diagnostic Impasse and Wandering in Patients With Rare Neuromuscular Diseases: Insights Into Patient Characteristics From the French National Network for Rare Neuromuscular Diseases (FILNEMUS) and the French National Rare Disease Database (BNDMR).
Rémy Dumas, Anne-Sophie Jannot, Nabila Elarouci, Emmanuelle Salort-Campana, Lucie Pisella, Elisabeth Sarrazin

Eur J Neurol· September 2025

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Systematic analysis of snRNA genes reveals frequent variants in dominant and recessive developmental and epileptic encephalopathies.
Elsa Leitão, Amandine Santini, Benjamin Cogne, Myriam Essid, Maria Athanasiadou, Elisabeth Sarrazin

medRxiv· September 2025

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Novel variants in FOXI3 gene confirm its implication in Oculo-Auriculo-Vertebral spectrum.
Angèle Sequeira, Thomas Sagardoy, Laetitia Bourgeade, Didier Lacombe, Elizabeth Sarrazin

Eur J Hum Genet· May 2025

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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, Karim Wahbi, Frédérique Audic, Elisabeth Sarrazin

Arch Pediatr· February 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, Elisabeth Sarrazin

Eur J Paediatr Neurol· November 2024

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