Etiological assessment of status epilepticus

Autor: Valton, L., Benaiteau, M., Denuelle, M., Rulquin, F., Hachon Le Camus, C., Hein, C., Viguier, A., Curot, J.

Publikováno v: In Revue Neurologique June 2020 176(6):408-426

Utilité de la ponction lombaire lors de la première convulsion fébrile chez l’enfant de moins de 18 mois. Étude rétrospective de 157 cas

Autor: Casasoprana, A., Hachon Le Camus, C., Claudet, I., Grouteau, E., Chaix, Y., Cances, C., Karsenty, C., Cheuret, E.

Publikováno v: In Archives de pédiatrie June 2013 20(6):594-600

Loss of SYNJ1 dual phosphatase activity leads to early onset refractory seizures and progressive neurological decline

Autor: Hardies, K, Cai, Y, Jardel, C, Jansen, Ac, Cao, M, May, P, Djémié, T, Hachon Le Camus, C, Keymolen, K, Deconinck, T, Bhambhani, V, Long, C, Sajan, Sa, Helbig, Kl, Suls, A, Balling, R, Helbig, I, De Jonghe, P, Depienne, C, De Camilli, P, Weckhuysen, S, Afawi, Z, Baulac, S, Barisic, N, Caglayan, H, Craiu, D, De Kovel CG, Lopez, Rg, Guerrini, R, Hjalgrim, H, Lerche, H, Jahn, J, Klein, Km, Koeleman, Bc, Leguern, E, Lemke, J, Marini, C, Muhle, H, Rosenow, F, Serratosa, Jm, Štěrbová, Ks, Møller, Rs, Palotie, A, Striano, P, Weber, Y, Zara, F.

Publikováno v: Hardies, K, Cai, Y, Jardel, C, Jansen, A C, Cao, M, May, P, Djémié, T, Hachon Le Camus, C, Keymolen, K, Deconinck, T, Bhambhani, V, Long, C, Sajan, S A, Helbig, K L, Suls, A, Balling, R, Helbig, I, De Jonghe, P, Depienne, C, De Camilli, P, Weckhuysen, S, AR working group of the EuroEPINOMICS RES Consortium, Hjalgrim, H & Møller, R S 2016, ' Loss of SYNJ1 dual phosphatase activity leads to early onset refractory seizures and progressive neurological decline ', Brain, vol. 139, no. 9, pp. 2420-2430 . https://doi.org/10.1093/brain/aww180
Brain

SYNJ1 encodes a polyphosphoinositide phosphatase (Synaptojanin 1) with a prominent role in synaptic vesicle dynamics. Hardies et al. report three families (six patients) with autosomal recessive SYNJ1 variants, who display early-onset refractory seiz

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bfd42340579b3b03b62e8e3ec7cc4317
https://portal.findresearcher.sdu.dk/da/publications/05f17da4-d544-415c-a1e4-0c98d4a00697

SYNGAP1-DEE: A visual sensitive epilepsy.

Autor: Lo Barco T; Reference Centre for Rare Epilepsies, Department of Pediatric Neurology, Necker Enfants Malades Hospital, Imagine Institute, Paris Descartes University, Paris, France; Child Neuropsychiatry, Department of Surgical Sciences, Dentistry, Gynecology and Pediatrics, University of Verona, Italy; PhD Program in Clinical and Experimental Medicine, University of Modena and Reggio Emilia, Italy. Electronic address: tommaso.lobarco@univr.it., Kaminska A; Department of Clinical Neurophysiology, Necker-Enfants-Malades Hospital, AP-HP, Paris, France., Solazzi R; Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy., Cancés C; Department of Pediatric Neurology, Toulouse Children Hospital, Toulouse University Hospital, Toulouse, France., Barcia G; Fédération de Génétique Médicale, Hôpital Necker-Enfants Malades, Paris, France., Chemaly N; Reference Centre for Rare Epilepsies, Department of Pediatric Neurology, Necker Enfants Malades Hospital, Imagine Institute, Paris Descartes University, Paris, France; Department of Paediatric Neurology, Necker-Enfants Malades Hospital, University of Paris, AP-HP, Paris, France., Fontana E; Child Neuropsychiatry, Department of Surgical Sciences, Dentistry, Gynecology and Pediatrics, University of Verona, Italy; Research Center for Pediatric Epilepsies Verona, Verona, Italy., Desguerre I; Department of Paediatric Neurology, Necker-Enfants Malades Hospital, University of Paris, AP-HP, Paris, France., Canafoglia L; Neurophysiopathology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy., Hachon Le Camus C; Department of Pediatric Neurology, Toulouse Children Hospital, Toulouse University Hospital, Toulouse, France., Losito E; Reference Centre for Rare Epilepsies, Department of Pediatric Neurology, Necker Enfants Malades Hospital, Imagine Institute, Paris Descartes University, Paris, France., Villard L; Pediatric Neurology Department, Timone Children Hospital, Reference Center for Rare Epilepsies, APHM, Marseille, France., Eisermann M; Department of Clinical Neurophysiology, Necker-Enfants-Malades Hospital, AP-HP, Paris, France., Dalla Bernardina B; Research Center for Pediatric Epilepsies Verona, Verona, Italy., Villeneuve N; Pediatric Neurology Department, Timone Children Hospital, Reference Center for Rare Epilepsies, APHM, Marseille, France., Nabbout R; Reference Centre for Rare Epilepsies, Department of Pediatric Neurology, Necker Enfants Malades Hospital, Imagine Institute, Paris Descartes University, Paris, France; Department of Paediatric Neurology, Necker-Enfants Malades Hospital, University of Paris, AP-HP, Paris, France. Electronic address: rima.nabbout@aphp.fr.

Publikováno v: Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology [Clin Neurophysiol] 2021 Apr; Vol. 132 (4), pp. 841-850. Date of Electronic Publication: 2021 Feb 03.

Slow Titration of Cannabidiol Add-On in Drug-Resistant Epilepsies Can Improve Safety With Maintained Efficacy in an Open-Label Study.

Autor: D'Onofrio G; Department of Pediatric Neurology, Reference Centre for Rare Epilepsies, Hôpital Necker-Enfants Malades, APHP, Paris, France.; Pediatric Residency, Department of Women and Child Health, University of Padua, Padua, Italy., Kuchenbuch M; Department of Pediatric Neurology, Reference Centre for Rare Epilepsies, Hôpital Necker-Enfants Malades, APHP, Paris, France.; Laboratory of Translational Research for Neurological Disorders, INSERM UMR 1163, Imagine Institute, Université de Paris, Paris, France., Hachon-Le Camus C; Department of Pediatric Neurology, Hôpital des Enfants, Toulouse University Hospital, Toulouse, France., Desnous B; AP-HM, Pediatric Neurology Department, Timone Children Hospital, Marseille, France., Staath V; Department of Pediatric Neurology, Strasbourg University Hospital, Hopital de Hautepierre, Strasbourg, France., Napuri S; Department of Pediatrics, Rennes University Hospital, University Rennes, Rennes, France., Ville D; Department of Pediatric Neurology, CNRS UMR 5304, Bron, France., Pedespan JM; Department of Pediatrics, Pellegrin University Hospital, Bordeaux, France., Lépine A; AP-HM, Pediatric Neurology Department, Timone Children Hospital, Marseille, France., Cances C; Department of Pediatric Neurology, Hôpital des Enfants, Toulouse University Hospital, Toulouse, France., de Saint-Martin A; Department of Pediatric Neurology, Strasbourg University Hospital, Hopital de Hautepierre, Strasbourg, France., Teng T; Department of Pediatric Neurology, Reference Centre for Rare Epilepsies, Hôpital Necker-Enfants Malades, APHP, Paris, France., Chemaly N; Department of Pediatric Neurology, Reference Centre for Rare Epilepsies, Hôpital Necker-Enfants Malades, APHP, Paris, France.; Laboratory of Translational Research for Neurological Disorders, INSERM UMR 1163, Imagine Institute, Université de Paris, Paris, France., Milh M; AP-HM, Pediatric Neurology Department, Timone Children Hospital, Marseille, France., Villeneuve N; AP-HM, Pediatric Neurology Department, Timone Children Hospital, Marseille, France., Nabbout R; Department of Pediatric Neurology, Reference Centre for Rare Epilepsies, Hôpital Necker-Enfants Malades, APHP, Paris, France.; Laboratory of Translational Research for Neurological Disorders, INSERM UMR 1163, Imagine Institute, Université de Paris, Paris, France.

Publikováno v: Frontiers in neurology [Front Neurol] 2020 Aug 12; Vol. 11, pp. 829. Date of Electronic Publication: 2020 Aug 12 (Print Publication: 2020).