Article
Episodic ataxias.
Handbook of clinical neurology - 1 Jan 2018
Jen Joanna C, Wan Jijun
Abstract excerpt
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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