Article
Genotype-phenotype relations for episodic ataxia genes: MDSGene systematic review.
European journal of neurology - 1 Oct 2023
Olszewska Diana Angelika, Shetty Aakash, Rajalingam Rajasumi, Rodriguez-Antiguedad Jon, Hamed Moath, Huang Jana, Breza Marianthi, Rasheed Ashar, Bahr Natascha, Madoev Harutyan, Westenberger Ana, Trinh Joanne, Lohmann Katja, Klein Christine, Marras Connie, Waln Olga
Abstract excerpt
BACKGROUND: Most episodic ataxias (EA) are autosomal dominantly inherited and characterized by recurrent attacks of ataxia and other paroxysmal and non-paroxysmal features. EA is often caused by pathogenic variants in the CACNA1A, KCNA1, PDHA1, and SLC1A3 genes, listed as paroxysmal movement disorders (PxMD) by the MDS Task Force on the Nomenclature of Genetic Movement Disorders. Little is known about the...
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