Genotype-phenotype relations for episodic ataxia genes: MDSGene systematic review.
Olszewska DA, Shetty A, Rajalingam R, Rodriguez-Antiguedad J, Hamed M, Huang J, Breza M, Rasheed A, Bahr N, Madoev H, Westenberger A, Trinh J, Lohmann K, Klein C, Marras C, Waln O.
Olszewska DA, et al.
Eur J Neurol. 2023 Oct;30(10):3377-3393. doi: 10.1111/ene.15969. Epub 2023 Jul 17.
Eur J Neurol. 2023.
PMID: 37422902
Review.
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 …
BACKGROUND: Most episodic ataxias (EA) are autosomal dominantly inherited and characterized by recurrent attacks of ataxia and other paroxys …