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

Affiliations

• ¹ German Center for Vertigo and Balance Disorders (DSGZ), Ludwig-Maximilians-Universität München, Campus Großhadern, Marchioninistr. 15, 81377, Munich, Germany. [email protected].
• ² Department of Pathology, Ludwig-Maximilians-Universität München, Munich, Germany.
• ³ Center for Human Genetics and Laboratory Diagnostics (CHGLD), Martinsried, Germany.
• ⁴ German Center for Vertigo and Balance Disorders (DSGZ), Ludwig-Maximilians-Universität München, Campus Großhadern, Marchioninistr. 15, 81377, Munich, Germany.
• ⁵ Department of Neurology, Ludwig-Maximilians-Universität München, Munich, Germany.