Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders
SCN2A mutations have been described in a wide range of epilepsies. Wolff et al showed that early onset epilepsies are caused by missense mutations, displaying G
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| Hauptverfasser: | , , , |
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| Dokumenttyp: | Article (Journal) |
| Sprache: | Englisch |
| Veröffentlicht: |
04 April 2017
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| In: |
Brain
Year: 2017, Jahrgang: 140, Heft: 5, Pages: 1316-1336 |
| ISSN: | 1460-2156 |
| DOI: | 10.1093/brain/awx054 |
| Online-Zugang: | Verlag, Volltext: http://dx.doi.org/10.1093/brain/awx054 Verlag, Volltext: https://academic.oup.com/brain/article/140/5/1316/3098477 
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| Verfasserangaben: | Markus Wolff, Katrine M. Johannesen, Ulrike B. S. Hedrich, Silvia Masnada, Guido Rubboli, Elena Gardella, Gaetan Lesca, Dorothée Ville, Mathieu Milh, Laurent Villard, Alexandra Afenjar, Sandra Chantot-Bastaraud, Cyril Mignot, Caroline Lardennois, Caroline Nava, Niklas Schwarz, Marion Gérard, Laurence Perrin, Diane Doummar, Stéphane Auvin, Maria J. Miranda, Maja Hempel, Eva Brilstra, Nine Knoers, Nienke Verbeek, Marjan van Kempen, Kees P. Braun, Grazia Mancini, Saskia Biskup, Konstanze Hörtnagel, Miriam Döcker, Thomas Bast, Tobias Loddenkemper, Lily Wong-Kisiel, Friedrich M. Baumeister, Walid Fazeli, Pasquale Striano, Robertino Dilena, Elena Fontana, Federico Zara, Gerhard Kurlemann, Joerg Klepper, Jess G. Thoene, Daniel H. Arndt, Nicolas Deconinck, Thomas Schmitt-Mechelke, Oliver Maier, Hiltrud Muhle, Beverly Wical, Claudio Finetti, Reinhard Brückner, Joachim Pietz, Günther Golla, Dinesh Jillella, Karen M. Linnet, Perrine Charles, Ute Moog, Eve Õiglane-Shlik, John F. Mantovani, Kristen Park, Marie Deprez, Damien Lederer, Sandrine Mary, Emmanuel Scalais, Laila Selim, Rudy Van Coster, Lieven Lagae, Marina Nikanorova, Helle Hjalgrim, G. Christoph Korenke, Marina Trivisano, Nicola Specchio, Berten Ceulemans, Thomas Dorn, Katherine L. Helbig, Katia Hardies, Hannah Stamberger, Peter de Jonghe, Sarah Weckhuysen, Johannes R. Lemke, Ingeborg Krägeloh-Mann, Ingo Helbig, Gerhard Kluger, Holger Lerche, Rikke S. Møller |
| Zusammenfassung: | SCN2A mutations have been described in a wide range of epilepsies. Wolff et al showed that early onset epilepsies are caused by missense mutations, displaying G |
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| Beschreibung: | Gesehen am 08.10.2018 |
| Beschreibung: | Online Resource |
| ISSN: | 1460-2156 |
| DOI: | 10.1093/brain/awx054 |