Hübner Christian A
Institut für Humangenetik, Universitätsklinikum Jena Friedrich Schiller Universität Jena, Jena, Germany.
EMBO Rep. 2014 Jul;15(7):732-3. doi: 10.15252/embr.201439039. Epub 2014 Jun 13.
In the mature brain, the neurotransmitter GABA can cause a postsynaptic hyperpolarization via activation of chloride permeant GABA receptor channels. This hyperpolarizing response critically depends on chloride extrusion via the KCl-cotransporter KCC2 . Its knockdown in mice impairs synaptic inhibition by changing the electrochemical potential for chloride and thus increases neuronal excitability ,. Two independent groups provide first evidence now, published in , that rare variants of KCC2 confer an increased risk of epilepsy in men ,.
在成熟大脑中，神经递质γ-氨基丁酸（GABA）可通过激活氯离子通透的GABA受体通道引起突触后超极化。这种超极化反应严重依赖于通过氯化钾协同转运体KCC2进行的氯离子外排。在小鼠中敲低KCC2会通过改变氯离子的电化学势损害突触抑制，从而增加神经元兴奋性。现在，两个独立的研究小组首次提供了证据，发表在某期刊上，表明KCC2的罕见变异会增加男性患癫痫的风险。
