Fiche personne


Territoire

Champagne-Ardenne

Statut

Hospitalo-Universitaire

Recherche

Expertises :
- Clinique:Génétique Médicale

Publications


Burst-Suppression EEG in Early Infantile Developmental and Epileptic Encephalopathies: Phenotype, Genotype, and Outcome.

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

Neurology. 2026 06 23;106(12):e218013

Ovarian central nervous system-type tumors: integrated neuropathological and methylation-based classification reveals site-related features.

Raby M, Trécourt A, Servant E, Lebre AS, Croce S, Treilleux I, Franceschi T, Averous G, Genestie C, Bucau M, Bouchoucha Y, Berrebi D, Saffroy R, Appay R, Just PA, Hasty L, Sassi F, Métais A, Varlet P, Devouassoux-Shisheboran M, Tauziède-Espariat A

Acta Neuropathol Commun. 2026 05 7;:

Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies.

Leitão E, Santini A, Cogne B, Essid M, Athanasiadou M, LaFlamme CW, Marijon P, Bernard V, Jousselin K, Chatron N, Barcia G, Keren B, Mignot C, Charles P, Besnard T, Paluch R, de Sainte Agathe JM, Almanza Fuerte EP, Sengupta S, Milh M, Ramond F, Allan T, An I, Araujo C, Arpin S, Austin-Tse C, Auvin S, Baer S, Bahi-Buisson N, Bak M, Barth M, Baulac S, Bednarek-Weirauch N, Begemann M, Bennett MF, Bensabath U, Bézieau S, Bhouri R, Biehler M, Hammer TB, Bogoin J, Bonanno E, Boussion S, Bris C, Brosseau-Beauvir A, Bruel AL, Briand-Suleau A, Buratti J, Celse T, Chambon P, Chemaly N, Chesneau B, Colin E, Colmard M, Colson C, Conrad S, Courtin T, Creveaux I, Cullier AC, Dang LT, de Saint Martin A, de Vanssay de Blavous Legendre C, Demeer B, Denommé-Pichon AS, Diekhoff P, DiTroia S, Doco-Fenzy M, Dubourg C, Dubucs C, Ducreux S, Dufour L, Duquet R, Durand B, El Chehadeh S, Elbracht M, Faivre L, Faoucher M, Faudet A, Forlani S, Fradin M, Gaignard P, Ganne B, Garde A, Géraud J, Gill D, Goldenberg A, Grabli D, Grisel C, Gueden S, Gueguen P, Guerrot AM, Guichet A, Haack TB, Härting N, Häusler MG, Heide S, Herget T, Héron B, Héron D, Herwig J, Heulin M, Holling T, Houdayer C, Isidor B, Jacquette A, Januel L, Jean-Marçais N, Kaiser FJ, Kaya S, King C, Konyukh M, Kraft F, Krause J, Kirstetter R, Kuechler A, Kurth I, Kutsche K, Labalme A, Laloy JS, Laugel V, Le Bricquir F, Lèbre AS, Lebrun M, Leguern E, Levy J, Lieffering N, Lyonnet S, Lüthy K, Macdonald SMW, Mansour-Hendili L, Maraval J, Marquardt I, Mattausch C, Mercier S, Messaoud O, Morel G, Mortreux J, Munnich A, Nabbout R, Nambot S, Navarro V, Neale A, Nguyen L, Nizon M, Nowak F, O'Leary MC, Odent S, Ojeda NM, Olin V, Olivieri S, Õunap K, Pais LS, Panagiotakaki E, Patat O, Perrin-Sabourin L, Petit F, Philippe C, Piton A, Planes M, Poirsier C, Pouzet A, Prouteau C, Quéméner-Redon S, Renaud M, Richard AC, Rio M, Rivier C, Robin-Renaldo F, Rollier P, Rossi M, Roubertie A, Ruault V, Rupin-Mas M, Saugier-Veber P, Saunier A, Saneto R, Sarrazin E, Sarret C, Schaefer E, Schluth-Bolard C, Schneider A, Schumann I, Seplyarskiy VB, Spranger S, Smol T, Sturm M, Sunyaev SR, Sperelakis-Beedham B, Stenton SL, Stock F, Tharreau M, Torun D, Toulouse J, Thiyagarajah H, Valence S, Valleix S, Van-Gils J, Villard L, Ville D, Villeneuve N, Vitobello A, Waernessyckle A, Wagner J, Weber Y, Wieczorek D, Witkowski T, Yadavilli M, Yammine T, Zaafrane-Khachnaoui K, Zaki MS, Ziegler A, Bramswig NC, Lermine A, Nicolas G, Gleeson JG, Sadleir LG, Hildebrand MS, Scheffer IE, Whiffin N, O'Donnell-Luria A, Mefford HC, Blanc P, Thevenon J, Charbonnier C, Charenton C, Depienne C, Lesca G, Nava C

Nat Genet. 2026 03 30;:

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