A novel epileptic encephalopathy mutation in KCNB1 disrupts Kv2.1 ion selectivity, expression, and localization

The epileptic encephalopathies are a group of highly heterogeneous genetic disorders. The majority of disease-causing mutations alter genes encoding voltage-gated ion channels, neurotransmitter receptors, or synaptic proteins. We have identified a novel de novo pathogenic K(+) channel variant in an...

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Detalles Bibliográficos
Autores principales: Thiffault, Isabelle, Speca, David J., Austin, Daniel C., Cobb, Melanie M., Eum, Kenneth S., Safina, Nicole P., Grote, Lauren, Farrow, Emily G., Miller, Neil, Soden, Sarah, Kingsmore, Stephen F., Trimmer, James S., Saunders, Carol J., Sack, Jon T.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Rockefeller University Press 2015
Materias:
Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4621747/
https://www.ncbi.nlm.nih.gov/pubmed/26503721
http://dx.doi.org/10.1085/jgp.201511444

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4621747/
https://www.ncbi.nlm.nih.gov/pubmed/26503721
http://dx.doi.org/10.1085/jgp.201511444

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