CLINICAL HETEROGENEITY AND ITS POTENTIAL THERAPEUTIC IMPLICATIONS IN CHILDREN WITH SCN2A-RELATED DISORDERS

Autor: Ceulemans, B., Lederer, D., Dorn, T., Helbig, K. L., Hardies, K., Stamberger, H., de Jonghe, P., Weckhuysen, S., Lemke, J. R., Helbig, I, Kluger, G., Moller, R. S., Johannesen, K. M., Wolf, M., Masnada, S., Rubboli, G., Gardella, E., Milh, M., Villard, L., Mignot, C., Lardennois, C., Bourel-Ponchel, Emilie, Nava, C., Lesca, G., Gerard, M., Perrin, L., Doummar, D., Auvin, S., Miranda, M. J., Brilstra, E., Knoers, N., Doecker, M., Bast, T., Loddenkemper, T., Wong-Kisiel, L., Baumeister, F. M., Fazeli, W., Striano, P., Kurlemann, G., Klepper, J., Thoene, J. G., Arndt, D. H., Schmitt-Mechelke, T., Maier, O., Muhle, H., Wical, B., Finetti, C., Brueckner, R., Pietz, J., Golla, G., Jillella, D., Afenjar, A., Linnet, K. M., Charles, P., Oiglane-Slik, E., Mantovani, J. F., Deprez, M., Scalais, E., Lagae, L., Nikanorova, M., Hjalgrim, H., Depienne, C., Scheidecker, S., Kremer, V, Doray, B., Alembik, y.

Publikováno v: EPILEPSIA
EPILEPSIA, 2016, 57 (2, SI), pp.114-115

International audience

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______1398::5aab8c89e9d95d3ab68674ad8c3c260a
https://hal-u-picardie.archives-ouvertes.fr/hal-03604346

Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders.

Autor: Wolff M; Department of Pediatric Neurology and Developmental Medicine, University Children's Hospital, Tübingen, Germany., Johannesen KM; The Danish Epilepsy Centre, Dianalund, Denmark.; Institute for Regional Health Services, University of Southern Denmark, Odense, Denmark., Hedrich UBS; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany., Masnada S; Department of Brain and Behavior, University of Pavia, Italy., Rubboli G; The Danish Epilepsy Centre, Dianalund, Denmark.; University of Copenhagen, Copenhagen, Denmark., Gardella E; The Danish Epilepsy Centre, Dianalund, Denmark.; Institute for Regional Health Services, University of Southern Denmark, Odense, Denmark., Lesca G; Department of Genetics, Lyon University Hospital, Lyon, France.; Claude Bernard Lyon I University, Lyon, France.; Lyon Neuroscience Research Centre, CNRS UMRS5292, INSERM U1028, Lyon, France., Ville D; Department of Pediatric Neurology and Reference Center for Rare Children Epilepsy and Tuberous Sclerosis, Hôpital Femme Mere Enfant, Centre Hospitalier Universitaire de Lyon, HCL, France., Milh M; APHM Service de neurologie pédiatrique, Marseille, France.; Aix Marseille Univ, Inserm, GMGF, UMR-S 910, Marseille, France., Villard L; Aix Marseille Univ, Inserm, GMGF, UMR-S 910, Marseille, France., Afenjar A; AP-HP, Unité de Gènètique Clinique, Hôpital Armand Trousseau, Groupe Hospitalier Universitaire de l'Est Parisien, Paris, France., Chantot-Bastaraud S; AP-HP, Unité de Gènètique Clinique, Hôpital Armand Trousseau, Groupe Hospitalier Universitaire de l'Est Parisien, Paris, France., Mignot C; AP-HP, Département de Génétique; Centre de Référence Défiences Intellectuelles de Causes Rares; Groupe de Recherche Clinique UPMC 'Déficiences Intellectuelles et Autisme' GH Pitié-Salpêtrère, Paris, France., Lardennois C; Service de Pediatrie neonatale et Réanimation - Neuropediatrie, 76000 Rouen, France., Nava C; Sorbonne Universités, UPMC Univ Paris 06, UMR S 1127, Inserm U 1127, CNRS UMR 7225, ICM, France.; Department of Genetics, Pitié-Salpêtrière Hospital, AP-HP, F-75013 Paris, France., Schwarz N; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany., Gérard M; Service de Génétique Clinique, CHU Caen, France., Perrin L; Department of Genetics, Robert Debré Hospital, AP-HP, Paris, France., Doummar D; AP-HP, Service de Neuropédiatrie, Hôpital Trousseau, Paris, France., Auvin S; Université Paris Diderot, Sorbonne Paris Cité, INSERM UMR1141, Paris, France.; AP-HP, Hôpital Robert Debré, Service de Neurologie Pédiatrique, Paris, France., Miranda MJ; Department of Pediatrics, Herlev University Hospital, Herlev, Denmark., Hempel M; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Brilstra E; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., Knoers N; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., Verbeek N; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., van Kempen M; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., Braun KP; Department of Pediatric Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, The Netherlands., Mancini G; Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, The Netherlands., Biskup S; CeGaT - Center for Genomics and Transcriptomics, Tübingen, Germany., Hörtnagel K; CeGaT - Center for Genomics and Transcriptomics, Tübingen, Germany., Döcker M; CeGaT - Center for Genomics and Transcriptomics, Tübingen, Germany., Bast T; Epilepsy Center Kork, Kehl, Germany., Loddenkemper T; Division of Epilepsy and Clinical Neurophysiology, Boston Children's Hospital, Harvard Medical School, Boston MA, USA., Wong-Kisiel L; Division of Child and Adolescent Neurology, Department of Neurology, Mayo Clinic, Rochester MN, USA., Baumeister FM; Children's Hospital, RoMed Klinikum, Rosenheim, Germany., Fazeli W; Pediatric Neurology, University Hospital Cologne, Germany., Striano P; Pediatric Neurology and Muscular Diseases Unit, Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, and Maternal and Child Health, University of Genoa 'G. Gaslini' Institute, Genova, Italy., Dilena R; Servizio di Epilettologia e Neurofisiopatologia Pediatrica, UO Neurofisiopatologia, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milano, Italy., Fontana E; Centro di Diagnosi e Cura delle Epilessie Infantili, Azienda Ospedaliera -Policlinico Gianbattista Rossi, Verona, Italy., Zara F; Laboratory of Neurogenetics and Neuroscience, Department of Neuroscience, 'G. Gaslini' Institute, Genova, Italy., Kurlemann G; Department of Pediatric Neurology, University Children's Hospital, Münster, Germany., Klepper J; Children's Hospital, Klinikum Aschaffenburg, Germany., Thoene JG; University of Michigan, Pediatric Genetics, Ann Arbor, MI USA., Arndt DH; Division of Pediatric Neurology and Epilepsy - Beaumont Children's Hospital, William Beaumont Oakland University School of Medicine, Royal Oak, Michigan, USA., Deconinck N; Department of Neurology, Hôpital Universitaire des Enfants Reine Fabiola, Université Libre de Bruxelles, Brussels, Belgium., Schmitt-Mechelke T; Children's Hospital Lucerne, Luzerner Kantonsspital, Kinderspital Luzern, CH-6000 Luzern 16, Switzerland., Maier O; Department of child neurology, Children's Hospital, St. Gallen, Switzerland., Muhle H; Department of Neuropediatrics, University Medical Center Schleswig-Holstein, Christian-Albrechts University, Kiel, Germany., Wical B; Gillette Children's Specialty Healthcare, Saint Paul, MN, USA., Finetti C; Klinik für Kinder- und Jugendmedizin, Elisabeth-Krankenhaus, Essen, Germany., Brückner R; Wangen, Germany., Pietz J; Pediatric Practice University Medical Center for Children and Adolescents, Angelika Lautenschläger Children's Hospital, Heidelberg, Germany., Golla G; Klinik für Kinder- und Jugendmedizin, Klinikum Lippe GmbH, Detmold, Germany., Jillella D; Division of Epilepsy and Clinical Neurophysiology, Department of Neurology, Boston Children's Hospital, Boston, MA, USA., Linnet KM; Department of Pediatrics, Aarhus University hospital, Aarhus, Denmark., Charles P; Department of Genetics and Cytogenetics, Assistance Publique-Hôpitaux de Paris, Groupe Hospitalier Pitié-Salpêtrière Charles-Foix, Paris, France., Moog U; Institute of Genetics, University Hospital, Heidelberg, Germany., Õiglane-Shlik E; Children's Clinic, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia., Mantovani JF; Department of Pediatrics and Mercy Kids Autism Center, Mercy Children's Hospital, St. Louis, Missouri, USA., Park K; Department of Pediatrics and Neurology, Children's Hospital Colorado, University of Colorado School of Medicine, Aurora, CO, USA., Deprez M; Centre de Génétique Humaine, Institut de Pathologie et Génétique, Gosselies, Belgium., Lederer D; Centre de Génétique Humaine, Institut de Pathologie et Génétique, Gosselies, Belgium., Mary S; Centre de Génétique Humaine, Institut de Pathologie et Génétique, Gosselies, Belgium., Scalais E; Pediatric Neurology Unit, Pediatric Department, Centre Hospitalier de Luxembourg, Luxembourg., Selim L; Department of Pediatrics, Pediatric Neurology and Neurometabolic Unit, Cairo University Children Hospital, Cairo, Egypt., Van Coster R; Department of Pediatrics, Division of Pediatric Neurology and Metabolism, Ghent University Hospital, Ghent, Belgium., Lagae L; Department of Development and Regeneration, Section Pediatric Neurology, University Hospital KU Leuven, Leuven, Belgium., Nikanorova M; The Danish Epilepsy Centre, Dianalund, Denmark., Hjalgrim H; The Danish Epilepsy Centre, Dianalund, Denmark.; Institute for Regional Health Services, University of Southern Denmark, Odense, Denmark., Korenke GC; Zentrum für Kinder- und Jugendmedizin (Elisabeth Kinderkrankenhaus), Klinik für Neuropädiatrie u. Angeborene, Stoffwechselerkrankungen, Oldenburg, Germany., Trivisano M; Neurology Unit, Department of Neuroscience, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Specchio N; Neurology Unit, Department of Neuroscience, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Ceulemans B; Paediatric Neurology University Hospital and University of Antwerp, Wilrijkstraat 10, 2650 Edegem, Belgium., Dorn T; Swiss Epilepsy Center, Zurich, Switzerland., Helbig KL; Division of Clinical Genomics, Ambry Genetics, Aliso Viejo, California, USA., Hardies K; Neurogenetics Group, Center for Molecular Neurology, VIB, Antwerp, Belgium.; Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium., Stamberger H; Neurogenetics Group, Center for Molecular Neurology, VIB, Antwerp, Belgium.; Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium.; Division of Neurology, University Hospital Antwerp (UZA), Antwerp, Belgium., de Jonghe P; Neurogenetics Group, Center for Molecular Neurology, VIB, Antwerp, Belgium.; Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium.; Division of Neurology, University Hospital Antwerp (UZA), Antwerp, Belgium., Weckhuysen S; Neurogenetics Group, Center for Molecular Neurology, VIB, Antwerp, Belgium.; Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium.; Division of Neurology, University Hospital Antwerp (UZA), Antwerp, Belgium., Lemke JR; Institute of Human Genetics, University of Leipzig Hospitals and Clinics, Leipzig, Germany., Krägeloh-Mann I; Department of Pediatric Neurology and Developmental Medicine, University Children's Hospital, Tübingen, Germany., Helbig I; Department of Neuropediatrics, University Medical Center Schleswig-Holstein, Christian-Albrechts University, Kiel, Germany.; Division of Neurology, The Children's Hospital of Philadelphia, Philadelphia, USA., Kluger G; Neuropediatric Clinic and Clinic for Neurorehabilitation, Epilepsy Center for Children and Adolescents, Schoen Klinik, Vogtareuth, Germany.; PMU Salzburg, Austria., Lerche H; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany., Møller RS; The Danish Epilepsy Centre, Dianalund, Denmark.; Institute for Regional Health Services, University of Southern Denmark, Odense, Denmark.

Publikováno v: Brain : a journal of neurology [Brain] 2017 May 01; Vol. 140 (5), pp. 1316-1336.

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