A novel pathogenic CACNA1A variant causing episodic ataxia type 2 (EA2) spectrum phenotype in four family members and a novel combined therapy.

Autor: Penkava J; German Center for Vertigo and Balance Disorders (DSGZ), Ludwig-Maximilians-Universität München, Campus Großhadern, Marchioninistr. 15, 81377, Munich, Germany. josef.penkava@med.uni-muenchen.de., Ledderose S; Department of Pathology, Ludwig-Maximilians-Universität München, Munich, Germany., Chahrokh-Zadeh S; Center for Human Genetics and Laboratory Diagnostics (CHGLD), Martinsried, Germany., Munzig A; Center for Human Genetics and Laboratory Diagnostics (CHGLD), Martinsried, Germany., Eulenburg Z; German Center for Vertigo and Balance Disorders (DSGZ), Ludwig-Maximilians-Universität München, Campus Großhadern, Marchioninistr. 15, 81377, Munich, Germany., Huppert D; German Center for Vertigo and Balance Disorders (DSGZ), Ludwig-Maximilians-Universität München, Campus Großhadern, Marchioninistr. 15, 81377, Munich, Germany., Strupp M; German Center for Vertigo and Balance Disorders (DSGZ), Ludwig-Maximilians-Universität München, Campus Großhadern, Marchioninistr. 15, 81377, Munich, Germany.; Department of Neurology, Ludwig-Maximilians-Universität München, Munich, Germany., Becker-Bense S; German Center for Vertigo and Balance Disorders (DSGZ), Ludwig-Maximilians-Universität München, Campus Großhadern, Marchioninistr. 15, 81377, Munich, Germany.
Jazyk: angličtina
Zdroj: Journal of neurology [J Neurol] 2020 Dec; Vol. 267 (Suppl 1), pp. 181-184. Date of Electronic Publication: 2020 Sep 10.
DOI: 10.1007/s00415-020-10190-1
Databáze: MEDLINE
Externí odkaz: