Spinocerebellar ataxia type 13 mutation that is associated with disease onset in infancy disrupts axonal pathfinding during neuronal development
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...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
| Published: |
The Company of Biologists
2012-11-01
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| Series: | Disease Models & Mechanisms |
| Online Access: | http://dmm.biologists.org/content/5/6/921 |