Article
Neutralization of a negative charge in the S1-S2 region of the KV7.2 (KCNQ2) channel affects voltage-dependent activation in neonatal epilepsy.
The Journal of physiology - 15 Jan 2008
Wuttke Thomas V, Penzien Johann, Fauler Michael, Seebohm Guiscard, Lehmann-Horn Frank, Lerche Holger, Jurkat-Rott Karin
Abstract excerpt
The voltage-gated potassium channels KV7.2 and KV7.3 (genes KCNQ2 and KCNQ3) constitute a major component of the M-current controlling the firing rate in many neurons. Mutations within these two channel subunits cause benign familial neonatal convulsions (BFNC). Here we identified a novel BFNC-causing mutation (E119G) in the S1-S2 region of KV7.2. Electrophysiological investigations in Xenopus oocytes using...
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