Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders

Wolff, Markus; Johannesen, Katrine M.; Hedrich, Ulrike B. S.; Masnada, Silvia; Rubboli, Guido; Gardella, Elena; Lesca, Gaetan; Ville, Dorothee; Milh, Mathieu; Villard, Laurent; Afenjar, Alexandra; Chantot-Bastaraud, Sandra; Mignot, Cyril; Lardennois, Caroline; Nava, Caroline; Schwarz, Niklas; Gerard, Marion; Perrin, Laurence; Doummar, Diane; Auvin, Stephane; Miranda, Maria J.; Hempel, Maja; Brilstra, Eva; Knoers, Nine; Verbeek, Nienke; van Kempen, Marjan; Braun, Kees P.; Mancini, Grazia; Biskup, Saskia; Hoertnagel, Konstanze; Doecker, Miriam; Bast, Thomas; Loddenkemper, Tobias; Wong-Kisiel, Lily; Baumeister, Friedrich M.; Fazeli, Walid; Striano, Pasquale; Dilena, Robertino; Fontana, Elena; Zara, Federico; Kurlemann, Gerhard; Klepper, Joerg; Thoene, Jess G.; Arndt, Daniel H.; Deconinck, Nicolas; Schmitt-Mechelke, Thomas; Maier, Oliver; Muhle, Hiltrud; Wical, Beverly; Finetti, Claudio; Brueckner, Reinhard; Pietz, Joachim; Golla, Guenther; Jillella, Dinesh; Linnet, Karen M.; Charles, Perrine; Moog, Ute; Oiglane-Shlik, Eve; Mantovani, John F.; Park, Kristen; Deprez, Marie; Lederer, Damien; Mary, Sandrine; Scalais, Emmanuel; Selim, Laila; Van Coster, Rudy; Lagae, Lieven; Nikanorova, Marina; Hjalgrim, Helle; Korenke, G. Christoph; Trivisano, Marina; Specchio, Nicola; Ceulemans, Berten; Dorn, Thomas; Helbig, Katherine L.; Hardies, Katia; Stamberger, Hannah; de Jonghe, Peter; Weckhuysen, Sarah; Lemke, Johannes R.; Kraegeloh-Mann, Ingeborg; Helbig, Ingo; Kluger, Gerhard; Lerche, Holger; Moller, Rikke S.

Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders

Autor(en):

Wolff, Markus; Johannesen, Katrine M.; Hedrich, Ulrike B. S.; Masnada, Silvia; Rubboli, Guido; Gardella, Elena; Lesca, Gaetan; Ville, Dorothee; Milh, Mathieu; Villard, Laurent; Afenjar, Alexandra; Chantot-Bastaraud, Sandra; Mignot, Cyril; Lardennois, Caroline; Nava, Caroline; Schwarz, Niklas; Gerard, Marion; Perrin, Laurence; Doummar, Diane; Auvin, Stephane; Miranda, Maria J.; Hempel, Maja; Brilstra, Eva; Knoers, Nine; Verbeek, Nienke; van Kempen, Marjan; Braun, Kees P.; Mancini, Grazia; Biskup, Saskia; Hoertnagel, Konstanze; Doecker, Miriam; Bast, Thomas; Loddenkemper, Tobias; Wong-Kisiel, Lily; Baumeister, Friedrich M.; Fazeli, Walid; Striano, Pasquale; Dilena, Robertino; Fontana, Elena; Zara, Federico; Kurlemann, Gerhard; Klepper, Joerg; Thoene, Jess G.; Arndt, Daniel H.; Deconinck, Nicolas; Schmitt-Mechelke, Thomas; Maier, Oliver; Muhle, Hiltrud; Wical, Beverly; Finetti, Claudio; Brueckner, Reinhard; Pietz, Joachim; Golla, Guenther; Jillella, Dinesh; Linnet, Karen M.; Charles, Perrine; Moog, Ute; Oiglane-Shlik, Eve; Mantovani, John F.; Park, Kristen; Deprez, Marie; Lederer, Damien; Mary, Sandrine; Scalais, Emmanuel; Selim, Laila; Van Coster, Rudy; Lagae, Lieven; Nikanorova, Marina; Hjalgrim, Helle; Korenke, G. Christoph; Trivisano, Marina; Specchio, Nicola; Ceulemans, Berten; Dorn, Thomas; Helbig, Katherine L.; Hardies, Katia; Stamberger, Hannah; de Jonghe, Peter; Weckhuysen, Sarah; Lemke, Johannes R.; Kraegeloh-Mann, Ingeborg; Helbig, Ingo; Kluger, Gerhard; Lerche, Holger; Moller, Rikke S.

Tübinger Autor(en):

Wolff, Markus
Hedrich, Ulrike B. S.
Schwarz, Niklas
Lerche, Holger
Krägeloh-Mann, Ingeborg

Erschienen in:

Brain (2017), Bd. 140, S. 1316-1336

Verlagsangabe:

Oxford Univ Press

Sprache:

Englisch

Referenz zum Volltext:

http://dx.doi.org/10.1093/brain/awx054

ISSN:

1460-2156