Spinocerebellar ataxia type 13 mutation that is associated with disease onset in infancy disrupts axonal pathfinding during neuronal development

• Main Authors: Fadi A. Issa (Author), Allan F. Mock (Author), Alvaro Sagasti (Author), Diane M. Papazian (Author)
• Format: Bog
• Udgivet: The Company of Biologists, 2012-11-01T00:00:00Z.
• Fag: article
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SUMMARY Spinocerebellar ataxia type 13 (SCA13) is an autosomal dominant disease caused by mutations in the Kv3.3 voltage-gated potassium (K+) channel. SCA13 exists in two forms: infant onset is characterized by severe cerebellar atrophy, persistent motor deficits and intellectual disability, whereas...