EAG

(redirected from KCNH1)
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EAG

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Among the different ion channels, increased expression of the functional KCNH1 -encoded human ethera'-go-go 1 (hEAGl) potassium channel was identified being responsible for higher cell proliferative rate in iPSC-derived MSCs using the Lian protocol [56, 58].
So far, two EAG isoforms Eag1 (KCNH1, Kv10.1) and Eag2 (KCNH5, Kv10.2) have been identified and they show similar electrophysiological features such as slow voltage-dependent activation, noninactivating, and inhibition by intracellular [Ca.sup.2+] [[[Ca.sup.2+]].sub.i] [4, 6, 7].
In humans, EAG1 is encoded by the KCNH1 gene located on chromosome 1q32.1--32.3 [4].
It seems that a single point KCNH1 mutation is not enough to cause the distinguishable phenotypic clinical features for all patients.
This EAG1 mutation with gain-of-function compared to that in other [K.sup.+] channels with loss-of-function indicates that the mechanisms mediating the epilepsy may be different from that in classical types of epilepsy [109], although some sodium channel blockers and GABA receptor agonists such as rufinamide, topiramate, and nitrazepam have been used to control seizures on the KCNH1 mutation-affected cases [22].
Bauer et al., "Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome," Nature Genetics, vol.