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4-Aminopyridine is a promising treatment option for patients with gain-of-function KCNA2-encephalopathy.
Hedrich, Ulrike B S; Lauxmann, Stephan; Wolff, Markus; Synofzik, Matthis; Bast, Thomas; Binelli, Adrian; Serratosa, José M; Martínez-Ulloa, Pedro; Allen, Nicholas M; King, Mary D; Gorman, Kathleen M; Zeev, Bruria Ben; Tzadok, Michal; Wong-Kisiel, Lily; Marjanovic, Dragan; Rubboli, Guido; Sisodiya, Sanjay M; Lutz, Florian; Ashraf, Harshad Pannikkaveettil; Torge, Kirsten; Yan, Pu; Bosselmann, Christian; Schwarz, Niklas; Fudali, Monika; Lerche, Holger.
Afiliación
  • Hedrich UBS; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tuebingen, 72076 Tuebingen, Germany.
  • Lauxmann S; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tuebingen, 72076 Tuebingen, Germany.
  • Wolff M; Department of Pediatric Neurology and Developmental Medicine, University Children's Hospital, 72076 Tuebingen, Germany.
  • Synofzik M; Department of Pediatric Neurology, Vivantes-Klinikum Neukölln, 12351 Berlin, Germany.
  • Bast T; Department of Neurology and Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research, University of Tuebingen, 72076 Tuebingen, Germany.
  • Binelli A; German Center for Neurodegenerative Diseases (DZNE), 72076 Tübingen, Germany.
  • Serratosa JM; Epilepsy Center Kork, 77694 Kehl-Kork, Germany.
  • Martínez-Ulloa P; Medical Faculty of the University of Freiburg, 79110 Freiburg, Germany.
  • Allen NM; Department of Pediatric Neurology, Elizalde Children's Hospital, C1270 Buenos Aires, Argentina.
  • King MD; Neurology Laboratory and Epilepsy Unit, Department of Neurology, IIS- Fundacio'n Jime'nez Di'az, UAM, 28040 Madrid, Spain.
  • Gorman KM; Centro de Investigacio'n Biome'dica en Red de Enfermedades Raras (CIBERER), 28029 Madrid, Spain.
  • Zeev BB; Neurology Laboratory and Epilepsy Unit, Department of Neurology, IIS- Fundacio'n Jime'nez Di'az, UAM, 28040 Madrid, Spain.
  • Tzadok M; Department of Paediatrics, Clinical Sciences Institute, National University of Ireland Galway, Galway H91 TK33, Ireland.
  • Wong-Kisiel L; Department of Neurology and Neurophysiology, Children's Health Ireland at Temple Street, Dublin DO1 YC67, Ireland.
  • Marjanovic D; School of Medicine and Medical Science, University College Dublin, Dublin DO4 V1W8, Ireland.
  • Rubboli G; Department of Neurology and Neurophysiology, Children's Health Ireland at Temple Street, Dublin DO1 YC67, Ireland.
  • Sisodiya SM; School of Medicine and Medical Science, University College Dublin, Dublin DO4 V1W8, Ireland.
  • Lutz F; Sackler School of Medicine Tel Aviv University, Tel Aviv 6997801, Israel.
  • Ashraf HP; Pediatric Neurology Unit, Edmond and Lilly Safra Pediatric Hospital, Sheba Medical Center, 5265601 Ramat Gan, Israel.
  • Torge K; Sackler School of Medicine Tel Aviv University, Tel Aviv 6997801, Israel.
  • Yan P; Pediatric Neurology Unit, Edmond and Lilly Safra Pediatric Hospital, Sheba Medical Center, 5265601 Ramat Gan, Israel.
  • Bosselmann C; Divisions of Child Neurology & Division of Epilepsy, Department of Neurology, Mayo Clinic College of Medicine, 200 First Street SW, Rochester, MN 55905, USA.
  • Schwarz N; Danish Epilepsy Center, Filadelfia, 4293 Dianalund, Denmark.
  • Fudali M; Danish Epilepsy Center, Filadelfia, 4293 Dianalund, Denmark.
  • Lerche H; University of Copenhagen, 1165 Copenhagen, Denmark.
Sci Transl Med ; 13(609): eaaz4957, 2021 Sep.
Article en En | MEDLINE | ID: mdl-34516822
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Encefalopatías / Epilepsia Límite: Humans Idioma: En Revista: Sci Transl Med Asunto de la revista: CIENCIA / MEDICINA Año: 2021 Tipo del documento: Article País de afiliación: Alemania Pais de publicación: Estados Unidos
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Encefalopatías / Epilepsia Límite: Humans Idioma: En Revista: Sci Transl Med Asunto de la revista: CIENCIA / MEDICINA Año: 2021 Tipo del documento: Article País de afiliación: Alemania Pais de publicación: Estados Unidos