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- W59832252 abstract "Neuronal nicotinic acetylcholine receptors are homo- or heteropentameric ion channels that contribute to a wide range of brain activities and physiological functions. At least 3 of the 12 known subunits are associated with sleep-related epilepsies in humans: CHRNA4, CHRNB2, and CHRNA2. The mutations detected in patients with autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) are mostly clustered in the pore-building part of the subunits. Functional studies demonstrated that the mutations increase agonist sensitivity, causing a gain-of-function effect. It is hypothesized that the net effect of this gain-of-function mutation is to increase GABAergic inhibition, and that the resulting hypersynchronization gives rise to seizures." @default.
- W59832252 created "2016-06-24" @default.
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- W59832252 date "2009-01-01" @default.
- W59832252 modified "2023-09-26" @default.
- W59832252 title "GENETICS | Sleep-Related Epilepsies and Mutations in Acetylcholine Receptors" @default.
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- W59832252 doi "https://doi.org/10.1016/b978-012373961-2.00284-8" @default.
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