Clinical and Electrophysiological Features of SCN8A Variants Causing Episodic or Chronic Ataxia
Hang Lyu,Christian M. Bosselmann,Katrine M. Johannesen,Mahmoud Koko,Juan Dario Ortigoza-Escobar,Sergio Aguilera-Albesa, Deyanira Garcia -Navas Nunez,Tarja Linnankivi,Eija Gaily, Henriette J. A. van Ruiten,Ruth Richardson,Cornelia Betzler,Gabriella Horvath,Eva Brilstra,Niels Geerdink,Daniele Orsucci,Alessandra Tessa,Elena Gardella,Zofia Fleszar,Ludger Schoels,Holger Lerche,Rikke S. Moller,Yuanyuan Liu EBioMedicine（2023）
关键词
SCN8A,Chronic ataxia,Episodic ataxia,Loss-of-function,Patch-clamp
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