Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy

The genetic basis of epileptic encephalopathies is increasingly recognised. Syrbe et al. define the role of SPTAN1 in childhood-onset epilepsies. In the largest

Saved in:
Bibliographic Details
Main Authors: Syrbe, Steffen (Author) , Mütze, Ulrike (Author) , Hoffmann, Georg F. (Author) , Korenke, Christoph (Author)
Format: Article (Journal)
Language:English
Published: 2017
In: Brain
Year: 2017, Volume: 140, Issue: 9, Pages: 2322-2336
ISSN:1460-2156
DOI:10.1093/brain/awx195
Online Access:Verlag, kostenfrei, Volltext: http://dx.doi.org/10.1093/brain/awx195
Verlag, Volltext: https://academic.oup.com/brain/article/140/9/2322/4096697
Get full text
Author Notes:Steffen Syrbe, Frederike L. Harms, Elena Parrini, Martino Montomoli, Ulrike Mütze, Katherine L. Helbig, Tilman Polster, Beate Albrecht, Ulrich Bernbeck, Ellen van Binsbergen, Saskia Biskup, Lydie Burglen, Jonas Denecke, Bénédicte Heron, Henrike O. Heyne, Georg F. Hoffmann, Frauke Hornemann, Takeshi Matsushige, Ryuki Matsuura, Mitsuhiro Kato, G. Christoph Korenke, Alma Kuechler, Constanze Lämmer, Andreas Merkenschlager, Cyril Mignot, Susanne Ruf, Mitsuko Nakashima, Hirotomo Saitsu, Hannah Stamberger, Tiziana Pisano, Jun Tohyama, Sarah Weckhuysen, Wendy Werckx, Julia Wickert, Francesco Mari, Nienke E. Verbeek, Rikke S. Møller, Bobby Koeleman, Naomichi Matsumoto, William B. Dobyns, Domenica Battaglia, Johannes R. Lemke, Kerstin Kutsche and Renzo Guerrini
Description
Summary:The genetic basis of epileptic encephalopathies is increasingly recognised. Syrbe et al. define the role of SPTAN1 in childhood-onset epilepsies. In the largest
Item Description: Published: 24 August 2017
Gesehen am 22.06.2018
Physical Description:Online Resource
ISSN:1460-2156
DOI:10.1093/brain/awx195