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The KC l‐cotransporter KCC 2 linked to epilepsy
Author(s) -
Hübner Christian A
Publication year - 2014
Publication title -
embo reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.584
H-Index - 184
eISSN - 1469-3178
pISSN - 1469-221X
DOI - 10.15252/embr.201439039
Subject(s) - cotransporter , epilepsy , chemistry , microbiology and biotechnology , biochemistry , biology , neuroscience , organic chemistry , sodium
In the mature brain, the neurotransmitter GABA can cause a postsynaptic hyperpolarization via activation of chloride permeant GABA A receptor channels. This hyperpolarizing response critically depends on chloride extrusion via the KC l‐cotransporter KCC 2 [1][Rivera C, 1999]. Its knockdown in mice impairs synaptic inhibition by changing the electrochemical potential for chloride and thus increases neuronal excitability [2][Hübner CA, 2001][3][Woo NS, 2002]. Two independent groups provide first evidence now, published in EMBO reports , that rare variants of KCC 2 confer an increased risk of epilepsy in men [4][Puskarjov M, 2014][5][Kahle KT, 2014].