Clinical spectrum and genotype-phenotype associations of KCNA2-related encephalopathies
Mutations in KCNA2 have been reported as a cause of encephalopathy. Masnada et al. describe different phenotypes of KCNA2 encephalopathies associated with loss-
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| Hauptverfasser: | , |
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| Dokumenttyp: | Article (Journal) |
| Sprache: | Englisch |
| Veröffentlicht: |
24 August 2017
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| In: |
Brain
Year: 2017, Jahrgang: 140, Heft: 9, Pages: 2337-2354 |
| ISSN: | 1460-2156 |
| DOI: | 10.1093/brain/awx184 |
| Online-Zugang: | Verlag, Volltext: http://dx.doi.org/10.1093/brain/awx184 Verlag, Volltext: https://academic.oup.com/brain/article/140/9/2337/4082896 
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| Verfasserangaben: | Silvia Masnada, Ulrike B. S. Hedrich, Elena Gardella, Julian Schubert, Charu Kaiwar, Eric W. Klee, Brendan C. Lanpher, Ralitza H. Gavrilova, Matthis Synofzik, Thomas Bast, Kathleen Gorman, Mary D. King, Nicholas M. Allen, Judith Conroy, Bruria Ben Zeev, Michal Tzadok, Christian Korff, Fanny Dubois, Keri Ramsey, Vinodh Narayanan, Jose M. Serratosa, Beatriz G. Giraldez, Ingo Helbig, Eric Marsh, Margaret O’Brien, Christina A. Bergqvist, Adrian Binelli, Brenda Porter, Eduardo Zaeyen, Dafne D. Horovitz, Markus Wolff, Dragan Marjanovic, Hande S. Caglayan, Mutluay Arslan, Sergio D. J. Pena, Sanjay M. Sisodiya, Simona Balestrini, Steffen Syrbe, Pierangelo Veggiotti, Johannes R. Lemke, Rikke S. Møller, Holger Lerche and Guido Rubboli |
| Zusammenfassung: | Mutations in KCNA2 have been reported as a cause of encephalopathy. Masnada et al. describe different phenotypes of KCNA2 encephalopathies associated with loss- |
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| Beschreibung: | Gesehen am 30.05.2018 |
| Beschreibung: | Online Resource |
| ISSN: | 1460-2156 |
| DOI: | 10.1093/brain/awx184 |