Article
Characterization of an epilepsy-associated variant of the human Cl-/HCO3(-) exchanger AE3.
American journal of physiology. Cell physiology - 1 Sept 2009
Vilas Gonzalo L, Johnson Danielle E, Freund Paul, Casey Joseph R
Abstract excerpt
Anion exchanger 3 (AE3), expressed in the brain, heart, and retina, extrudes intracellular HCO(3)(-) in exchange for extracellular Cl(-). The SLC4A3 gene encodes two variants of AE3, brain or full-length AE3 (AE3(fl)) and cardiac AE3 (cAE3). Epilepsy is a heterogeneous group of disorders characterized by recurrent unprovoked seizures that affect about 50 million people worldwide. The AE3-A867D allele in humans...
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