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Expanding the clinical and EEG spectrum of CNKSR2-related encephalopathy with status epilepticus during slow sleep (ESES).
Bonardi, Claudia M; Mignot, Cyril; Serratosa, Jose M; Giraldez, Beatriz G; Moretti, Raffaella; Rudolf, Gabrielle; Reale, Chiara; Gellert, Pia M; Johannesen, Katrine M; Lesca, Gaetan; Tassinari, Carlo A; Gardella, Elena; Møller, Rikke S; Rubboli, Guido.
Afiliação
  • Bonardi CM; Danish Epilepsy Centre, Dianalund, Denmark; Department of Woman's and Child's Health, University Hospital of Padua, Italy. Electronic address: claudiamaria.bonardi@gmail.com.
  • Mignot C; APHP, Groupe Hospitalier Pitié Salpêtrière, Unité Fonctionnelle de Génétique Médicale, Paris, France; Centre de Référence Déficiences Intellectuelles de Causes Rares, Paris, France; INSERM U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle
  • Serratosa JM; Neurology Laboratory and Epilepsy Unit, Department of Neurology, IIS-Fundación Jiménez Díaz, UAM, Madrid, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain. Electronic address: joseserratosa@me.com.
  • Giraldez BG; Neurology Laboratory and Epilepsy Unit, Department of Neurology, IIS-Fundación Jiménez Díaz, UAM, Madrid, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain. Electronic address: BGonzalezG@fjd.es.
  • Moretti R; APHP, Physiology Department, Trousseau Hospital, Paris, France. Electronic address: Raffaella.moretti@aphp.fr.
  • Rudolf G; Institut de Génétique et de Biologie Moléculaire et Cellulaire, CNRS U7104, INSERM U1258 Illkirch 67400, France; Department of Neurology, Strasbourg University Hospital, Université de Strasbourg Strasbourg, France. Electronic address: Gabrielle.Rudolf@chru-strasbourg.fr.
  • Reale C; Danish Epilepsy Centre, Dianalund, Denmark; Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy. Electronic address: chiara.reale.neu@gmail.com.
  • Gellert PM; Danish Epilepsy Centre, Dianalund, Denmark. Electronic address: pmg@filadelfia.dk.
  • Johannesen KM; Danish Epilepsy Centre, Dianalund, Denmark. Electronic address: kamaa@filadelfia.dk.
  • Lesca G; Hospices Civils de Lyon, Service de Génétique, CHU de Lyon, Lyon, France. Electronic address: gaetan.lesca@chu-lyon.fr.
  • Tassinari CA; University of Bologna, Bologna, Italy. Electronic address: carloalbertotassinari@gmail.com.
  • Gardella E; Danish Epilepsy Centre, Dianalund, Denmark; Institute for Regional Health Services, University of Southern Denmark, Odense, Denmark. Electronic address: elga@filadelfia.dk.
  • Møller RS; Danish Epilepsy Centre, Dianalund, Denmark; Institute for Regional Health Services, University of Southern Denmark, Odense, Denmark. Electronic address: rimo@filadelfia.dk.
  • Rubboli G; Danish Epilepsy Centre, Dianalund, Denmark; University of Copenhagen, Copenhagen, Denmark. Electronic address: guru@filadelfia.dk.
Clin Neurophysiol ; 131(5): 1030-1039, 2020 05.
Article em En | MEDLINE | ID: mdl-32197126
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Estado Epiléptico / Variação Genética / Encefalopatias / Proteínas Adaptadoras de Transdução de Sinal / Eletroencefalografia / Sono de Ondas Lentas Limite: Adult / Child / Child, preschool / Female / Humans / Male Idioma: En Ano de publicação: 2020 Tipo de documento: Article
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Estado Epiléptico / Variação Genética / Encefalopatias / Proteínas Adaptadoras de Transdução de Sinal / Eletroencefalografia / Sono de Ondas Lentas Limite: Adult / Child / Child, preschool / Female / Humans / Male Idioma: En Ano de publicação: 2020 Tipo de documento: Article