KCNH3 Loss-of-Function Variant Associated with Epilepsy and Neurodevelopmental Delay Enhances Kv12.2 Channel Inactivation

@article{Bauer2025KCNH3LV,
 title={KCNH3 Loss-of-Function Variant Associated with Epilepsy and Neurodevelopmental Delay Enhances Kv12.2 Channel Inactivation},
 author={Christiane K. Bauer and Arne Bilet and Frederike Leonie Harms and Robert B{\"a}hring},
 journal={International Journal of Molecular Sciences},
 year={2025},
 volume={26},
 url={https://api.semanticscholar.org/CorpusID:278607324}
}
Kv12.2 data show similarities to Kv11 channels regarding C-type inactivation and differences regarding the sensitivity to external K+ and pharmacological inhibition of inactivation, as well as similarities to Kv11 channels regarding C-type inactivation and differences regarding the sensitivity to external K+ and pharmacological inhibition of inactivation.

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This is the first study to identify a dominant mechanism, class 2, for the loss of Kv11.1 channel function in LQT2 and to report that the class 2 phenotype for many of these mutant channels can be corrected, which suggests that if therapeutic strategies to correct protein trafficking abnormalities can be developed, it may offer clinical benefits for L QT2 patients.

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