Publications by authors named "Mathieu Milh"

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A large cohort study of prenatal exome sequencing redefines diagnosis in fetal corpus callosum anomalies.
Delphine Héron, Anna Gerasimenko, Lisa Frugère, Jade Ducourneau, Capucine Rossi, Mathieu Milh

Brain· December 2025

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Mitochondrial Leigh syndrome: the state of the art.
Gauthier Toutain, Célia Hoebeke, Marguerite Gastaldi, Mathieu Milh, Brigitte Chabrol

Arch Pediatr· November 2025

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Long-term outcomes of a cohort of patients with pharmacoresistant neonatal epilepsy and negative brain MRI.
Thibault Beretti, William Rozalen, Laurent Villard, Florence Riccardi, Geraldine Daquin, Mathieu Milh

Epilepsia Open· October 2025

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Attenuated Clinical Forms of Tubulinopathies in Children and Adults: A Series of 24 Individuals.
Meghane Durizot, Lydie Burglen, Catherine Garel, Eléonore Blondiaux, Audrey Riquet, Mathieu Milh

Pediatr Neurol· September 2025

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CINeMA: Conditional Implicit Neural Multi-Modal Atlas for a Spatio-Temporal Representation of the Perinatal Brain.
Maik Dannecker, Vasiliki Sideri-Lampretsa, Sophie Starck, Angeline Mihailov, Mathieu Milh

IEEE Trans Med Imaging· 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, Mathieu Milh

medRxiv· September 2025

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Fulminant idiopathic intracranial hypertension mimicking Chiari I malformation in a pediatric patient: diagnostic value of MRI and promising outcomes with venous sinus stenting.
Manel Krouma, Basile Kerleroux, Beatrice Desnous, Jean François Hak, Mathieu Milh

Childs Nerv Syst· September 2025

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Early motor outcomes in infants with complex congenital heart disease: the predictive role of NSE and S100B.
Narjess Boutalbi, Samuel Dahan, William Rozalen, Thibault Beretti, Laurene Fortis, Mathieu Milh

Pediatr Res· September 2025

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Long-term treatment with carbamazepine restores cognitive abilities in a mouse model of KCNQ2 developmental and epileptic encephalopathy.
Jordane Louis, Natalia Doudka, Marie-Solenne Félix, Adeline Spiga Ghata, Camille Espanet, Mathieu Milh

Epilepsia Open· August 2025

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The Clinical and Genetic Landscape of a French Multicenter Cohort of 2563 Epilepsy Patients Referred for Genetic Diagnosis.
Jean-Madeleine de Sainte Agathe, Pauline Monin, Florence Riccardi, Caroline Nava, Lionel Arnaud, Mathieu Milh

Eur J Neurol· August 2025

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Broadening the phenotype associated with pathogenic variants in the FGF12 gene: From developmental and epileptic encephalopathy to drug-responsive epilepsy with favorable cognitive outcome.
Clément Pierret, Florence Riccardi, Julien Neveu, Marie Alesandrini, Cécilia Altuzarra, Mathieu Milh

Epilepsia· June 2025

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GABRA2-related encephalopathy: Identification of two phenotypes with distinctive electroclinical features.
Marie Adamo-Croux, Chloé Angelini, Jérôme Aupy, Laurent Villard, Nathalie Villeneuve, Mathieu Milh

Epilepsia· June 2025

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Stereoelectroencephalographic exploration and surgical outcome in Lennox-Gastaut syndrome.
Soomi Cho, Julia Makhalova, Samuel Medina Villalon, Nathalie Villeneuve, Agnes Trébuchon, Mathieu Milh

Epilepsia· May 2025

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Amitriptyline use in individuals with KCNQ2/3 gain-of-function variants: A retrospective cohort study.
Matthias De Wachter, Charissa Millevert, Joost Nicolai, Elisabeth Cats, Gerhard Kluger, Mathieu Milh

Epilepsia· May 2025

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Burst of gyrification in the human brain after birth.
Angeline Mihailov, Alexandre Pron, Julien Lefèvre, Christine Deruelle, Béatrice Desnous, Mathieu Milh

Commun Biol· May 2025

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Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders.
Elisa Cali, Tania Quirin, Clarissa Rocca, Stephanie Efthymiou, Antonella Riva, Mathieu Milh

Genet Med· April 2025

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Long-term safety and efficacy of adjunctive perampanel in pediatric patients (ages 4 to <12 years) with inadequately controlled focal-onset seizures or generalized tonic-clonic seizures.
Robert Flamini, Andras Fogarasi, Hirowo Omatsu, Mathieu Milh, Steven Phillips

Epilepsia· April 2025

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Initiative to federate research contributors: The Polyhandicap REsearch NEtwork PolyRENE.
Karine Baumstarck, Vincent Gautheron, Hugo Bessaguet, Adélaïde Brosseau-Beauvir, Sylvain Brochard, Mathieu Milh

J Epidemiol Popul Health· April 2025

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Elucidating the clinical and genetic spectrum of inositol polyphosphate phosphatase INPP4A-related neurodevelopmental disorder.
Lettie E Rawlins, Reza Maroofian, Stuart J Cannon, Muhannad Daana, Mina Zamani, Mathieu Milh

Genet Med· February 2025

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Effectiveness of sodium channel blockers in treating neonatal seizures due to arterial ischemic stroke.
Veronica Pegoraro, Renaud Viellevoye, Geneviève Malfilatre, Robertino Dilena, Jacopo Proietti, Mathieu Milh

Epilepsia· February 2025

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Understanding paralogous epilepsy-associated GABA receptor variants: Clinical implications, mechanisms, and potential pitfalls.
Anthony S H Kan, Ali S Kusay, Nazanin A Mohammadi, Susan X N Lin, Vivian W Y Liao, Mathieu Milh

Proc Natl Acad Sci U S A· December 2024

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Distinct neurodevelopmental and epileptic phenotypes associated with gain- and loss-of-function GABRB2 variants.
Nazanin Azarinejad Mohammadi, Philip Kiær Ahring, Vivian Wan Yu Liao, Han Chow Chua, Sebastián Ortiz de la Rosa, Mathieu Milh

EBioMedicine· August 2024

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Phosphatidylserine enriched with polyunsaturated n-3 fatty acid supplementation for attention-deficit hyperactivity disorder in children and adolescents with epilepsy: A randomized placebo-controlled trial.
Sylvain Rheims, Vania Herbillon, Ségolène Gaillard, Catherine Mercier, Nathalie Villeuve, Mathieu Milh

Epilepsia Open· April 2024

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Diffuse interstitial lung disease in a male fetus with periventricular nodular heterotopia and filamin A mosaic variant.
Beatrice Desnous, Guillaume Carles, Florence Riccardi, Nathalie Stremler, Melissa Baravalle, Mathieu Milh

Prenat Diagn· March 2024

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Loss of NDST1 N-sulfotransferase activity is associated with autosomal recessive intellectual disability.
Elham Khosrowabadi, Cécile Mignon-Ravix, Florence Riccardi, Pierre Cacciagli, Béatrice Desnous, Mathieu Milh

Hum Mol Genet· February 2024

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