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Novel KCNQ1 Q234K variant, identified in patients with long QT syndrome and epileptiform activity, induces both gain- and loss-of-function of slowly activating delayed rectifier potassium currents

IntroductionKCNQ1 and KCNE1 form slowly activating delayed rectifier potassium currents (IKs). Loss-of-function of IKs by KCNQ1 variants causes type-1 long QT syndrome (LQTS). Also, some KCNQ1 variants are reported to cause epilepsy. Segment 4 (S4) of voltage-gated potassium channels has several pos...

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Hlavní autoři: Tadashi Nakajima, Shuntaro Tamura, Reika Kawabata-Iwakawa, Hideki Itoh, Hiroshi Hasegawa, Takashi Kobari, Shun Harasawa, Akiko Sekine, Masahiko Nishiyama, Masahiko Kurabayashi, Keiji Imoto, Yoshiaki Kaneko, Yosuke Nakatani, Minoru Horie, Hideki Ishii
Médium: Artigo
Jazyk:Inglês
Vydáno: Frontiers Media S.A. 2024-07-01
Edice:Frontiers in Physiology
Témata:
epilepsy
epileptiform activity
IKs
KCNQ1
long QT syndrome
segment 4
On-line přístup:https://www.frontiersin.org/articles/10.3389/fphys.2024.1401822/full
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