Fiche publication
Date publication
juin 2026
Journal
Neurology
Auteurs
Membres identifiés du Cancéropôle Est :
Pr LEBRE Anne-Sophie
,
Pr THAUVIN-ROBINET Christel
Tous les auteurs :
Riccardi F, Desnous B, Borloz E, Lepine A, Lacoste C, Mignon-Ravix C, Cacciagli P, Missirian C, Molinari F, Mortreux J, Afenjar A, Altuzarra C, Auvin S, Bar C, Barth M, Biscaye S, Bourel-Ponchel E, Cabasson S, Cances C, Castelnau P, Caubel I, Carneiro M, Chabrol B, Chadie A, Chaussenot A, Cheuret E, Chouchane M, Cogné B, Colin E, Demurger F, Desportes V, Dieux-Coeslier A, Doummar D, Goizet C, Goldenberg A, Ghoumid J, Guerrot AM, Herenger Y, Heron D, Horvath G, Ilunga S, Isidor B, Jeanne M, Julia S, Kaminska A, Lagrue E, Lambert L, Lebre AS, Lefranc J, Lesca G, Levrat V, Mansour H, Marey I, Marret S, Maurey H, Metreau J, Mignot C, Naudion S, Neveu J, Patat O, Pasquier L, Perrier JB, Petit F, Poulat AL, Quélin C, Richelme C, Rollier P, Rondeau S, Roubertie A, Schaefer E, De Saint-Martin A, Thauvin C, Torre S, Toutain A, Van Coster R, Ville DM, Villeneuve N, Villard L, Milh M
Lien Pubmed
Résumé
Developmental and epileptic encephalopathies (DEEs) with early burst-suppression EEG (EIDEE-BS) are among the most severe neonatal epileptic syndromes, typically presenting in the first months of life with refractory seizures and profound neurodevelopmental impairment. Although variants in the , , and genes are recognized as major causes, the full genetic spectrum remains uncertain. We aimed to delineate the electroclinical characteristics, genetic etiologies, and long-term outcomes in a large MRI-negative EIDEE-BS cohort.
Mots clés
Humans, Female, Electroencephalography, methods, Infant, Phenotype, Male, Retrospective Studies, KCNQ2 Potassium Channel, genetics, Child, Preschool, Munc18 Proteins, genetics, Spasms, Infantile, genetics, Genotype, NAV1.2 Voltage-Gated Sodium Channel, genetics, Epilepsy, genetics, Child, Infant, Newborn
Référence
Neurology. 2026 06 23;106(12):e218013
