Article
Episodic ataxia type 1 mutations differentially affect neuronal excitability and transmitter release.
Disease models & mechanisms - 1 Jan 2009
Heeroma Joost H, Henneberger Christian, Rajakulendran Sanjeev, Hanna Michael G, Schorge Stephanie, Kullmann Dimitri M
Abstract excerpt
Heterozygous mutations of KCNA1, the gene encoding potassium channel Kv1.1 subunits, cause episodic ataxia type 1 (EA1), which is characterized by paroxysmal cerebellar incoordination and interictal myokymia. Some mutations are also associated with epilepsy. Although Kv1.1-containing potassium channels play important roles in neuronal excitability and neurotransmitter release, it is not known how mutations...
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