Functional consequences of a KCNT1 variant associated with status dystonicus and early‐onset infantile encephalopathy

OBJECTIVE: We identified a novel de novo KCNT1 variant in a patient with early‐infantile epileptic encephalopathy (EIEE) and status dystonicus, a life‐threatening movement disorder. We determined the functional consequences of this variant on the encoded K(Na)1.1 channel to investigate the molecular...

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Detalles Bibliográficos
Autores principales: Gertler, Tracy S., Thompson, Christopher H., Vanoye, Carlos G., Millichap, John J., George, Alfred L.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6764634/
https://www.ncbi.nlm.nih.gov/pubmed/31560846
http://dx.doi.org/10.1002/acn3.50847

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6764634/
https://www.ncbi.nlm.nih.gov/pubmed/31560846
http://dx.doi.org/10.1002/acn3.50847

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