Familial neonatal seizures caused by the Kv7.3 selectivity filter mutation T313I

OBJECTIVE: A spectrum of seizure disorders is linked to mutations in Kv7.2 and Kv7.3 channels. Linking functional effects of identified mutations to their clinical presentation requires ongoing characterization of newly identified variants. In this study, we identified and functionally characterized...

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Detalles Bibliográficos
Autores principales: Maghera, Jasmine, Li, Jingru, Lamothe, Shawn M., Braun, Marvin, Appendino, Juan P., Au, P. Y. Billie, Kurata, Harley T.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Full‐length Original Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7733659/
https://www.ncbi.nlm.nih.gov/pubmed/33336127
http://dx.doi.org/10.1002/epi4.12438

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7733659/
https://www.ncbi.nlm.nih.gov/pubmed/33336127
http://dx.doi.org/10.1002/epi4.12438

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