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• W2025421672 abstract "Benign familial neonatal seizures (BFNS) are a dominant epilepsy syndrome caused by mutations in the voltage-gated potassium channels KV7.2 and KV7.3. We examined the molecular pathomechanism of a BFNS-causing mutation (p.N258S) in the extracellular S5-H5 loop of KV7.2. Wild type (WT) and mutant channels, expressed in both Xenopus laevis oocytes and CHO cells, were studied using electrophysiological techniques. The results revealed a pronounced loss-of-function with a dominant-negative effect of the mutant on WT KV7.2 and KV7.3 channels. Since single-channel recordings of KV7.3–KV7.2 and KV7.3–N285S concatemers showed similar properties for both constructs, we hypothesized that the observed reduction in current amplitude was due to a folding and trafficking defect, which was confirmed by biochemical and immunocytochemical experiments revealing a reduced number of mutant channels in the surface membrane. Furthermore, rescuing experiments revealed that upon specific incubation of transfected CHO cells—either at lower temperatures of <30°C or in presence of the agonist retigabine (RTG)—the N258S-derived currents increased fivefold in contrast to the WT. The obtained results represent a first example of temperature and pharmacological rescue of a KV7 mutation and suggest a folding and trafficking deficiency as the cause of reduced current amplitudes with a dominant-negative effect of N258S mutant proteins. ©2011 Wiley-Liss, Inc." @default.
• W2025421672 created "2016-06-24" @default.
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• W2025421672 date "2011-09-19" @default.
• W2025421672 modified "2023-10-17" @default.
• W2025421672 title "Temperature and pharmacological rescue of a folding-defective, dominantl-negative KV7.2 mutation associated with neonatal seizures" @default.
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• W2025421672 doi "https://doi.org/10.1002/humu.21554" @default.
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