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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Bibliographic Details
Main Authors:	Wolff, Markus (Author) , Pietz, Joachim (Author) , Moog, Ute (Author) , Korenke, Christoph (Author)
Format:	Article (Journal)
Language:	English
Published:	04 April 2017
In:	Brain Year: 2017, Volume: 140, Issue: 5, Pages: 1316-1336
ISSN:	1460-2156
DOI:	10.1093/brain/awx054
Online Access:	Verlag, Volltext: http://dx.doi.org/10.1093/brain/awx054 Verlag, Volltext: https://academic.oup.com/brain/article/140/5/1316/3098477
Author Notes:	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

Description
Summary:	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
Item Description:	Gesehen am 08.10.2018
Physical Description:	Online Resource
ISSN:	1460-2156
DOI:	10.1093/brain/awx054