Comprehensive Exonic Sequencing of Known Ataxia Genes in Episodic Ataxia

Episodic Ataxias (EAs) are a small group (EA1–EA8) of complex neurological conditions that manifest as incidents of poor balance and coordination. Diagnostic testing cannot always find causative variants for the phenotype, however, and this along with the recently proposed EA type 9 (EA9), suggest t...

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Bibliographic Details
Main Authors: Neven Maksemous, Heidi G. Sutherland, Robert A. Smith, Larisa M. Haupt, Lyn R. Griffiths
Format: Article
Language:English
Published: MDPI AG 2020-05-01
Series:Biomedicines
Subjects:
Online Access:https://www.mdpi.com/2227-9059/8/5/134