Whole-exome sequencing improves the diagnosis yield in sporadic infantile spasm syndrome
Dimassi, S., Labalme, A., Ville, D., Calender, A., Mignot, C., Boutry-Kryza, N., de Bellescize, J., Rivier-Ringenbach, C., Bourel-Ponchel, E., Cheillan, D., Simonet, T., Maincent, K., Rossi, M., Till, M., Mougou-Zerelli, S., Edery, P., Saad, A., Heron, D., des Portes, V., Sanlaville, D., Lesca, G.
Published in Clinical genetics (01.02.2016)
Published in Clinical genetics (01.02.2016)
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STAG2 microduplication in a patient with eyelid myoclonia and absences and a review of EMA-related reported genes
Gokce-Samar, Z., de Bellescize, J., Arzimanoglou, A., Putoux, A., Chatron, N., Lesca, G., Portes, V. des
Published in European journal of medical genetics (01.12.2022)
Published in European journal of medical genetics (01.12.2022)
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West syndrome due to compound heterozygous QARS mutations
Poulat, A.L, Lesca, G, Chatron, N, Labalme, A, Des Portes, V, Sanlaville, D, De Bellescize, J, Ville, D
Published in European journal of paediatric neurology (01.06.2017)
Published in European journal of paediatric neurology (01.06.2017)
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Journal Article
Christianson syndrome: An underestimated cause of electrical status epilepticus in sleep?
Mathieu, M.-L, de Bellescize, J, Till, M, Labalme, A, Chatron, N, Sanlaville, D, Ostrowsky-Coste, K, Des Portes, V, Lesca, G
Published in European journal of paediatric neurology (01.06.2017)
Published in European journal of paediatric neurology (01.06.2017)
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Journal Article
Effects of regular auditory or auditory-visual prime sequence on the syntax treatment in childhood absence epilepsy
Gavanon, M, Abadie, R, Ilski Lecoanet, F, Tiillmann, B, Panagiotakaki, E, De Bellescize, J, Keo Kosal, P, Ostrowsky-Coste, K, Montavont, A, Arzimanoglou, A, Bedoin, N
Published in European journal of paediatric neurology (01.06.2017)
Published in European journal of paediatric neurology (01.06.2017)
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Journal Article
Characterization of retinal arteries by adaptive optics ophthalmoscopy image analysis
Rossant, F., Bloch, I., Trimeche, I., Bellescize, J.-B. de Regnault de, Farias, D. Castro, Krivosic, V., Chabriat, H., Paques, M.
Published in IEEE transactions on biomedical engineering (03.06.2024)
Published in IEEE transactions on biomedical engineering (03.06.2024)
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Effect of sleep stages on synchronized spontaneous otoacoustic emissions in pre-term neonates
MORLET, T, FERBER-VIART, C, DE BELLESCIZE, J, BADINAND, N, DUCLAUX, R
Published in Clinical neurophysiology (01.08.2000)
Published in Clinical neurophysiology (01.08.2000)
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White matter development in children with benign childhood epilepsy with centro-temporal spikes
CIUMAS, Carolina, SAIGNAVONGS, Mani, MARINIER, Dominique Sappey, MONTAVONT, Alexandra, OSTROWSKY-COSTE, Karine, BEDOIN, Nathalie, RYVLIN, Philippe, LLSKI, Faustine, HERBILLON, Vania, LAURENT, Agathe, LOTHE, Amelie, HECKEMANN, Rolf A, DE BELLESCIZE, Julitta, PANAGIOTAKAKI, Eleni, HANNOUN, Salem
Published in Brain (London, England : 1878) (01.04.2014)
Published in Brain (London, England : 1878) (01.04.2014)
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Journal Article
Molecular and Phenotypic Characterization of the RORB -Related Disorder
Gokce-Samar, Zeynep, Vetro, Annalisa, De Bellescize, Julitta, Pisano, Tiziana, Monteiro, Laloe, Penaud, Noémie, Korff, Christian M, Fluss, Joel, Marini, Carla, Cesaroni, Elisabetta, Alvarez, Blanca Mercedes, Sanlaville, Damien, Chatron, Nicolas, Arzimanoglou, Alexis A, Labalme, Audrey, Cuddapah, Vishnu A, Ruggiero, Sarah M, Lecoquierre, Francois, Nicolas, Gael, Marie, Guerrot Anne, Lebas, Axel, Testard, Herve O, Helbig, Katherine L, Ruiz, Anna, Ngoh, Adeline, Kurian, Manju A, Reid, Kimberley, Spaull, Robert, Joset, Pascal, Ramantani, Georgia, Steindl, Katharina, Krenn, Martin, Gerstl, Lucia, Vieker, Silvia, Craiu, Dana, Pendziwiat, Manuela, Haldeman-Englert, Chad, Kanivets, Ilya, Romanova, Irina, Rajan, Deepa S, Rosenfeld, Jill A, Au, Margaret, Grand, Katheryn, Graham, Jr, John, Isapof, Arnaud, Villeneuve, Nathalie, Smol, Thomas, Caumes, Roseline, Zacher, Pia, Neuser, Sonja, Tinschert, Sigrid, Platzer, Konrad, Bartolomaeus, Tobias, Mohnke, Ines, Radtke, Maximilian, Jamra, Rami Abou, Helbig, Ingo, Jansen, Floortje E, Koop, Klaas, Rudolf, Gabrielle, Küry, Sebastien, Courchet, Julien, Guerrini, Renzo, Lesca, Gaetan
Published in Neurology (23.01.2024)
Published in Neurology (23.01.2024)
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Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy
Chatron, Nicolas, Becker, Felicitas, Morsy, Heba, Schmidts, Miriam, Hardies, Katia, Tuysuz, Beyhan, Roselli, Sandra, Najafi, Maryam, Alkaya, Dilek Uludag, Ashrafzadeh, Farah, Nabil, Amira, Omar, Tarek, Maroofian, Reza, Karimiani, Ehsan Ghayoor, Hussien, Haytham, Kok, Fernando, Ramos, Luiza, Gunes, Nilay, Bilguvar, Kaya, Labalme, Audrey, Alix, Eudeline, Sanlaville, Damien, de Bellescize, Julitta, Poulat, Anne-Lise, Moslemi, Ali-Reza, Lerche, Holger, May, Patrick, Lesca, Gaetan, Weckhuysen, Sarah, Tajsharghi, Homa
Published in Brain (London, England : 1878) (01.05.2020)
Published in Brain (London, England : 1878) (01.05.2020)
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Individualized prediction of seizure relapse and outcomes following antiepileptic drug withdrawal after pediatric epilepsy surgery
Lamberink, Herm J., Boshuisen, Kim, Otte, Willem M., Geleijns, Karin, Braun, Kees P. J., Feucht, M, Gröppel, G, Kahane, P, Minotti, L, Arzimanoglou, A, Ryvlin, P, Panagiotakaki, E, Bellescize, J, Ostrowsky‐Coste, K, Hirsch, E, Valenti, M, Polster, T, Sassen, R, Hoppe, C, Kuczaty, S, Elger, C, Schubert, S, Strobl, K, Bast, T, Barba, C, Guerrini, R, Giordano, F, Francione, S, Caputo, D, Boshuisen, K, Braun, K P J, Uiterwaal, C S P M, Nieuwenhuizen, O, Leijten, F S, Rijen, P C, Seeck, M, Yalnizoglu, D, Turanli, G, Topcu, M, Özkara, C, Uzan, M, Cross, J H, D'Argenzio, L, Harkness, W
Published in Epilepsia (Copenhagen) (01.03.2018)
Published in Epilepsia (Copenhagen) (01.03.2018)
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Journal Article
Comparison of two next-generation sequencing kits for diagnosis of epileptic disorders with a user-friendly tool for displaying gene coverage, DeCovA
Dimassi, Sarra, Simonet, Thomas, Labalme, Audrey, Boutry-Kryza, Nadia, Campan-Fournier, Amandine, Lamy, Raphaelle, Bardel, Claire, Elsensohn, Mad-Hélénie, Roucher-Boulez, Florence, Chatron, Nicolas, Putoux, Audrey, de Bellescize, Julitta, Ville, Dorothée, Schaeffer, Laurent, Roy, Pascal, Mougou-Zerelli, Soumaya, Saad, Ali, Calender, Alain, Sanlaville, Damien, Lesca, Gaetan
Published in Applied & translational genomics (01.12.2015)
Published in Applied & translational genomics (01.12.2015)
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Épilepsies focales liées à l’âge de l’enfant avec mutation du gène GRIN2A : différents syndromes mais une entité pathologique unique ?
Lecocq, C., Valenti-Hirsch, M.-P., Motte, J., Doummar, D., de Bellescize, J., Rudolf, G., Hirsch, E.
Published in Revue neurologique (01.04.2014)
Published in Revue neurologique (01.04.2014)
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Le bilan des encéphalopathies épileptiques précoces dans la pratique quotidienne d’un service de neuropédiatrie en 2013
Ville, D., Lesca, G., Milh, M., De Bellescize, J., Blanchard, G., Des Portes, V.
Published in Archives de pédiatrie : organe officiel de la Société française de pédiatrie (01.04.2013)
Published in Archives de pédiatrie : organe officiel de la Société française de pédiatrie (01.04.2013)
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CO17 Néonatologie Diagnostic neonatal d'hyperekplexia
Deprez, M., Des Portes, V., De Bellescize, J., Keo Kosal, P., Putet, G.
Published in Archives de pédiatrie : organe officiel de la Société française de pédiatrie (01.05.2003)
Published in Archives de pédiatrie : organe officiel de la Société française de pédiatrie (01.05.2003)
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