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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Detalles Bibliográficos
Autores principales: Lee, Inn-Chi, Yang, Jiann-Jou, Wong, Swee-Hee, Liou, Ying-Ming, Li, Shuan-Yow
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7415140/
https://www.ncbi.nlm.nih.gov/pubmed/32770121
http://dx.doi.org/10.1038/s41598-020-70212-w

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7415140/
https://www.ncbi.nlm.nih.gov/pubmed/32770121
http://dx.doi.org/10.1038/s41598-020-70212-w

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