A novel pathogenic CACNA1A variant causing episodic ataxia type 2 (EA2) spectrum phenotype in four family members and a novel combined therapy
- Josef Penkava
- , S. Ledderose
- , S. Chahrokh-Zadeh
- , A. Munzig
- , zu Eulenburg
- , D. Huppert
- , M. Strupp
- , S. Becker-Bense
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