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Heteromeric Kv7.2 current changes caused by loss-of-function of KCNQ2 mutations are correlated with long-term neurodevelopmental outcomes

Pediatric epilepsy caused by KCNQ2 mutations can manifest benign familial neonatal convulsions (BFNC) to neonatal-onset epileptic encephalopathy (EE). Patients might manifest mild to profound neurodevelopmental disabilities. We analysed c.853C > A (P285T) and three mutations that cause KCNQ2 prot...

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發表在:Sci Rep
Main Authors: Lee, Inn-Chi, Yang, Jiann-Jou, Wong, Swee-Hee, Liou, Ying-Ming, Li, Shuan-Yow
格式: Artigo
語言:Inglês
出版: Nature Publishing Group UK 2020
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在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC7415140/
https://ncbi.nlm.nih.gov/pubmed/32770121
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-020-70212-w
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