Interhemispheric coherence of EEG rhythms in children: Maturation and differentiation in corpus callosum dysgenesis
Guillou, J., Duprez, J., Nabbout, R., Kaminska, A., Napuri, S., Gomes, C., Kuchenbuch, M., Sauleau, P.
Published in Neurophysiologie clinique (01.05.2024)
Published in Neurophysiologie clinique (01.05.2024)
Get full text
Journal Article
Severe neonatal episodic laryngospasm due to de novo SCN4A mutations: a new treatable disorder
Lion-Francois, L, Mignot, C, Vicart, S, Manel, V, Sternberg, D, Landrieu, P, Lesca, G, Broussolle, E, Billette de Villemeur, T, Napuri, S, des Portes, V, Fontaine, B
Published in Neurology (17.08.2010)
Published in Neurology (17.08.2010)
Get more information
Journal Article
Guanosine diphosphate-mannose:GlcNAc2-PP-dolichol mannosyltransferase deficiency (congenital disorders of glycosylation type Ik): five new patients and seven novel mutations
Dupré, T, Vuillaumier-Barrot, S, Chantret, I, Yayé, H S, Le Bizec, C, Afenjar, A, Altuzarra, C, Barnérias, C, Burglen, L, de Lonlay, P, Feillet, F, Napuri, S, Seta, N, Moore, S E H
Published in Journal of medical genetics (01.11.2010)
Published in Journal of medical genetics (01.11.2010)
Get full text
Journal Article
Chronic Diarrhea in l-Amino Acid Decarboxylase (AADC) Deficiency: A Prominent Clinical Finding Among a Series of Ten French Patients
Spitz, M. A., Nguyen, M. A., Roche, S., Heron, B., Milh, M., de Lonlay, P., Lion-François, L., Testard, H., Napuri, S., Barth, M., Fournier-Favre, S., Christa, L., Vianey-Saban, C., Corne, C., Roubertie, A.
Published in JIMD Reports, Volume 31 (01.01.2017)
Published in JIMD Reports, Volume 31 (01.01.2017)
Get full text
Book Chapter
Journal Article
A prospective open-labeled trial with levetiracetam in pediatric epilepsy syndromes: Continuous spikes and waves during sleep is definitely a target
Chhun, S, Troude, P, Villeneuve, N, Soufflet, C, Napuri, S, Motte, J, Pouplard, F, Alberti, C, Helfen, S, Pons, G, Dulac, O, Chiron, C
Published in Seizure (London, England) (01.05.2011)
Published in Seizure (London, England) (01.05.2011)
Get full text
Journal Article
Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood-a study of 155 patients
Panagiotakaki, Eleni, De Grandis, Elisa, Stagnaro, Michela, Heinzen, Erin L, Fons, Carmen, Sisodiya, Sanjay, de Vries, Boukje, Goubau, Christophe, Weckhuysen, Sarah, Kemlink, David, Scheffer, Ingrid, Lesca, Gaëtan, Rabilloud, Muriel, Klich, Amna, Ramirez-Camacho, Alia, Ulate-Campos, Adriana, Campistol, Jaume, Giannotta, Melania, Moutard, Marie-Laure, Doummar, Diane, Hubsch-Bonneaud, Cecile, Jaffer, Fatima, Cross, Helen, Gurrieri, Fiorella, Tiziano, Danilo, Nevsimalova, Sona, Nicole, Sophie, Neville, Brian, van den Maagdenberg, Arn M J M, Mikati, Mohamad, Goldstein, David B, Vavassori, Rosaria, Arzimanoglou, Alexis
Published in Orphanet journal of rare diseases (26.09.2015)
Published in Orphanet journal of rare diseases (26.09.2015)
Get full text
Journal Article
ADHD in childhood epilepsy: Clinical determinants of severity and of the response to methylphenidate
Rheims, Sylvain, Herbillon, Vania, Villeneuve, Nathalie, Auvin, Stéphane, Napuri, Silvia, Cances, Claude, Berquin, Patrick, Castelneau, Pierre, Nguyen The Tich, Sylvie, Villega, Frédéric, Isnard, Hervé, Nabbout, Rima, Gaillard, Ségolène, Mercier, Catherine, Kassai, Behrouz, Arzimanoglou, Alexis, Pedespan, Jean‐Michel, Bellescize, Julitta, Keo‐Kosal, Pascale, Panagiotakaki, Eleni, Montavont, Alexandra, Ostrowski‐Coste, Karine, Milh, Mathieu, Chiron, Catherine, Chemaly, Nicole, Bellavoine, Vanina, Barthez, Marie‐Anne
Published in Epilepsia (Copenhagen) (01.07.2016)
Published in Epilepsia (Copenhagen) (01.07.2016)
Get full text
Journal Article
Guanosine diphosphate-mannose: GIcNAc2-PP-dolichol mannosyltransferase deficiency (congenital disorders of glycosylation type Ik): five new patients and seven novel mutations
DUPRE, T, VUILLAUMIER-BARROT, S, FEILLET, F, NAPURI, S, SETA, N, MOORE, S. E. H, CHANTRET, I, YAYE, H. S, LE BIZEC, C, AFENJAR, A, ALTUZARRA, C, BARNERIAS, C, BURGLEN, L, DE LONLAY, P
Published in Journal of medical genetics (2010)
Get full text
Published in Journal of medical genetics (2010)
Journal Article
Dysgénésie calleuse : présentations radiocliniques et implications génétiques chez 40 enfants
Arberet, C., Bretaudeau, G., Lepage, J.-M., Pasquier, L., Bruneau, B., Napuri, S., Rozel, C., Chouklati, K., Tréguier, C.
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)
Get full text
Journal Article
Magnetoencephalographic studies of two cases of diffuse subcortical laminar heterotopia or so-called double cortex
Toulouse, Pierre, Agulhon, Cyril, Taussig, Delphine, Napuri, Sylvia, Biraben, Arnaud, Jannin, Pierre, Carsin, Michel, Scarabin, Jean-Marie
Published in NeuroImage (Orlando, Fla.) (01.08.2003)
Published in NeuroImage (Orlando, Fla.) (01.08.2003)
Get full text
Journal Article
Déficit en décarboxylase des acides amines aromatiques (AADC) chez dix patients français : particularités phénotypiques
Spitz, M.-A., Nguyen, M.-A., Ogier, H., Roche, S., Garcia, N., Roze, E., Gras, D., De Pontual, L., Heron, B., Milh, M., Chabrol, B., Cano, A., Bahi-Buisson, N., Desguerre, I., De Lonlay, P., Lion-François, L., Testard, H., Damaj, L., Napuri, S., Barth, M., Küster, A., Rivier, F., Fournier-Favre, S., Christa, L., Moussa, F., Benoist, J.-F., Ottolenghi, C., Vianey-Saban, C., Corne, C., Roubertie, A.
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)
Get full text
Journal Article
36 Accouchements entre 22 et 27 semaines d’aménorrhée et 6 jours et devenir à 2 ans des enfants nés à ce terme
Le Guennec, A., Beuchee, A., Napuri, S., Loeuillet-Olivo, L., Branger, B.
Published in Journal de gynécologie, obstétrique et biologie de la reproduction (2004)
Published in Journal de gynécologie, obstétrique et biologie de la reproduction (2004)
Get full text
Journal Article