Large Genomic Deletions in CACNA1A Cause Episodic Ataxia Type 2

Large Genomic Deletions in CACNA1A Cause Episodic Ataxia Type 2

Episodic ataxia (EA) syndromes are heritable diseases characterized by dramatic episodes of imbalance and incoordination. Episodic ataxia type 2 (EA2), the most common and the best characterized subtype, is caused by mostly nonsense, splice site, small indel and sometimes missense mutations in CACN...

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Bibliographic Details
Main Authors: Jijun eWan, Hafsa eMamsa, Janine L Johnston, Elizabeth L Spriggs, Harvey S Singer, David S Zee, Alhamza R Al-Bayati, Robert W Baloh, Joanna C Jen
Format: Article
Language:English
Published: Frontiers Media S.A. 2011-09-01
Series:Frontiers in Neurology
Subjects:
Mutation
genomic rearrangement
CACNA1A
EA2
episodic ataxia
Online Access:http://journal.frontiersin.org/Journal/10.3389/fneur.2011.00051/full

Internet

http://journal.frontiersin.org/Journal/10.3389/fneur.2011.00051/full

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