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Cannabidiol counters the effects of a dominant-negative pathogenic Kv7.2 variant
Epilepsy and neurodevelopmental disorders can arise from pathogenic variants of KCNQ (Kv7) channels. A patient with developmental and epileptic encephalopathy exhibited an in-frame deletion of histidine 260 on Kv7.2. Coexpression of Kv7.2 mutant (mut) subunits with Kv7.3 invoked a decrease in curren...
Autores principales: | Zhan, Xiaoqin, Drummond-Main, Chris, Greening, Dylan, Yao, Jinjing, Chen, S.W.R., Appendino, J.P., Au, P. Y. Billie, Turner, Ray W. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Elsevier
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9490039/ https://www.ncbi.nlm.nih.gov/pubmed/36157585 http://dx.doi.org/10.1016/j.isci.2022.105092 |
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