Electrophysiological features: The next precise step for SCN2A developmental epileptic encephalopathy

BACKGROUND: To investigate the relationships among phenotypes, genotypes, and funotypes of SCN2A‐related developmental epileptic encephalopathy (DEE). METHODS: We enrolled five DEE patients with five de novo variants of the SCN2A. Functional analysis and pharmacological features of Nav1.2 channel pr...

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Detalles Bibliográficos
Autores principales: Miao, Pu, Tang, Siyang, Ye, Jia, Wang, Jianda, Lou, Yuting, Zhang, Bijun, Xu, Xiaoxiao, Chen, Xiaoquan, Li, Yuezhou, Feng, Jianhua
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7336724/
https://www.ncbi.nlm.nih.gov/pubmed/32400968
http://dx.doi.org/10.1002/mgg3.1250

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7336724/
https://www.ncbi.nlm.nih.gov/pubmed/32400968
http://dx.doi.org/10.1002/mgg3.1250

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