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The KCl‐cotransporter KCC2 linked to epilepsy
Authors:Christian A Hübner
Institution:Institut für Humangenetik, Universitätsklinikum Jena, Friedrich Schiller Universität Jena, Jena, Germany
Abstract:In the mature brain, the neurotransmitter GABA can cause a postsynaptic hyperpolarization via activation of chloride permeant GABAA receptor channels. This hyperpolarizing response critically depends on chloride extrusion via the KCl‐cotransporter KCC2 1 . Its knockdown in mice impairs synaptic inhibition by changing the electrochemical potential for chloride and thus increases neuronal excitability 2 3 . Two independent groups provide first evidence now, published in EMBO reports, that rare variants of KCC2 confer an increased risk of epilepsy in men 4 5 .
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