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A Simple Composite Phenotype Scoring System for Evaluating Mouse Models of Cerebellar Ataxia
Published on: May 21, 2010
Episodic ataxias
1Department of Neurology, David Geffen School of Medicine, University of California, Los Angeles, CA, United States; Department of Neurobiology, David Geffen School of Medicine, University of California, Los Angeles, CA, United States.
Abstract:
The familial episodic ataxias (EAs) are prototypical channelopathies in the central nervous system clinically characterized by attacks of imbalance and incoordination variably associated with progressive ataxia and variable interictal features. EA1, EA2, and EA6 are caused by mutations in ion channel- and transporter-encoding genes that regulate neuronal excitability and neurotransmission.
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