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Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders.
Wolff, Markus; Johannesen, Katrine M; Hedrich, Ulrike B S; Masnada, Silvia; Rubboli, Guido; Gardella, Elena; Lesca, Gaetan; Ville, Dorothée; Milh, Mathieu; Villard, Laurent; Afenjar, Alexandra; Chantot-Bastaraud, Sandra; Mignot, Cyril; Lardennois, Caroline; Nava, Caroline; Schwarz, Niklas; Gérard, Marion; Perrin, Laurence; Doummar, Diane; Auvin, Stéphane; Miranda, Maria J; Hempel, Maja; Brilstra, Eva; Knoers, Nine; Verbeek, Nienke; van Kempen, Marjan; Braun, Kees P; Mancini, Grazia; Biskup, Saskia; Hörtnagel, Konstanze; Döcker, Miriam; Bast, Thomas; Loddenkemper, Tobias; Wong-Kisiel, Lily; Baumeister, Friedrich M; Fazeli, Walid; Striano, Pasquale; Dilena, Robertino; Fontana, Elena; Zara, Federico; Kurlemann, Gerhard; Klepper, Joerg; Thoene, Jess G; Arndt, Daniel H; Deconinck, Nicolas; Schmitt-Mechelke, Thomas; Maier, Oliver; Muhle, Hiltrud; Wical, Beverly; Finetti, Claudio.
Afiliação
  • Wolff M; Department of Pediatric Neurology and Developmental Medicine, University Children's Hospital, Tübingen, Germany.
  • Johannesen KM; The Danish Epilepsy Centre, Dianalund, Denmark.
  • Hedrich UBS; Institute for Regional Health Services, University of Southern Denmark, Odense, Denmark.
  • Masnada S; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.
  • Rubboli G; Department of Brain and Behavior, University of Pavia, Italy.
  • Gardella E; The Danish Epilepsy Centre, Dianalund, Denmark.
  • Lesca G; University of Copenhagen, Copenhagen, Denmark.
  • Ville D; The Danish Epilepsy Centre, Dianalund, Denmark.
  • Milh M; Institute for Regional Health Services, University of Southern Denmark, Odense, Denmark.
  • Villard L; Department of Genetics, Lyon University Hospital, Lyon, France.
  • Afenjar A; Claude Bernard Lyon I University, Lyon, France.
  • Chantot-Bastaraud S; Lyon Neuroscience Research Centre, CNRS UMRS5292, INSERM U1028, Lyon, France.
  • Mignot C; 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.
  • Lardennois C; APHM Service de neurologie pédiatrique, Marseille, France.
  • Nava C; Aix Marseille Univ, Inserm, GMGF, UMR-S 910, Marseille, France.
  • Schwarz N; Aix Marseille Univ, Inserm, GMGF, UMR-S 910, Marseille, France.
  • Gérard M; AP-HP, Unité de Gènètique Clinique, Hôpital Armand Trousseau, Groupe Hospitalier Universitaire de l'Est Parisien, Paris, France.
  • Perrin L; AP-HP, Unité de Gènètique Clinique, Hôpital Armand Trousseau, Groupe Hospitalier Universitaire de l'Est Parisien, Paris, France.
  • Doummar D; 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.
  • Auvin S; Service de Pediatrie neonatale et Réanimation - Neuropediatrie, 76000 Rouen, France.
  • Miranda MJ; Sorbonne Universités, UPMC Univ Paris 06, UMR S 1127, Inserm U 1127, CNRS UMR 7225, ICM, France.
  • Hempel M; Department of Genetics, Pitié-Salpêtrière Hospital, AP-HP, F-75013 Paris, France.
  • Brilstra E; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.
  • Knoers N; Service de Génétique Clinique, CHU Caen, France.
  • Verbeek N; Department of Genetics, Robert Debré Hospital, AP-HP, Paris, France.
  • van Kempen M; AP-HP, Service de Neuropédiatrie, Hôpital Trousseau, Paris, France.
  • Braun KP; Université Paris Diderot, Sorbonne Paris Cité, INSERM UMR1141, Paris, France.
  • Mancini G; AP-HP, Hôpital Robert Debré, Service de Neurologie Pédiatrique, Paris, France.
  • Biskup S; Department of Pediatrics, Herlev University Hospital, Herlev, Denmark.
  • Hörtnagel K; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
  • Döcker M; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
  • Bast T; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
  • Loddenkemper T; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
  • Wong-Kisiel L; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
  • Baumeister FM; Department of Pediatric Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, The Netherlands.
  • Fazeli W; Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, The Netherlands.
  • Striano P; CeGaT - Center for Genomics and Transcriptomics, Tübingen, Germany.
  • Dilena R; CeGaT - Center for Genomics and Transcriptomics, Tübingen, Germany.
  • Fontana E; CeGaT - Center for Genomics and Transcriptomics, Tübingen, Germany.
  • Zara F; Epilepsy Center Kork, Kehl, Germany.
  • Kurlemann G; Division of Epilepsy and Clinical Neurophysiology, Boston Children's Hospital, Harvard Medical School, Boston MA, USA.
  • Klepper J; Division of Child and Adolescent Neurology, Department of Neurology, Mayo Clinic, Rochester MN, USA.
  • Thoene JG; Children's Hospital, RoMed Klinikum, Rosenheim, Germany.
  • Arndt DH; Pediatric Neurology, University Hospital Cologne, Germany.
  • Deconinck N; 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.
  • Schmitt-Mechelke T; Servizio di Epilettologia e Neurofisiopatologia Pediatrica, UO Neurofisiopatologia, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milano, Italy.
  • Maier O; Centro di Diagnosi e Cura delle Epilessie Infantili, Azienda Ospedaliera -Policlinico Gianbattista Rossi, Verona, Italy.
  • Muhle H; Laboratory of Neurogenetics and Neuroscience, Department of Neuroscience, "G. Gaslini" Institute, Genova, Italy.
  • Wical B; Department of Pediatric Neurology, University Children's Hospital, Münster, Germany.
  • Finetti C; Children's Hospital, Klinikum Aschaffenburg, Germany.
Brain ; 140(5): 1316-1336, 2017 May 01.
Article em En | MEDLINE | ID: mdl-28379373
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Bloqueadores dos Canais de Sódio / Epilepsia / Canal de Sódio Disparado por Voltagem NAV1.2 / Transtornos do Neurodesenvolvimento Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male País/Região como assunto: Europa Idioma: En Revista: Brain Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Alemanha País de publicação: Reino Unido
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Bloqueadores dos Canais de Sódio / Epilepsia / Canal de Sódio Disparado por Voltagem NAV1.2 / Transtornos do Neurodesenvolvimento Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male País/Região como assunto: Europa Idioma: En Revista: Brain Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Alemanha País de publicação: Reino Unido