KCNA1 gain‐of‐function epileptic encephalopathy treated with 4‐aminopyridine

Precision medicine for Mendelian epilepsy is rapidly developing. We describe an early infant with severely pharmacoresistant multifocal epilepsy. Exome sequencing revealed the de novo variant p.(Leu296Phe) in the gene KCNA1, encoding the voltage‐gated K(+) channel subunit K(V)1.1. So far, loss‐of‐fu...

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Detalles Bibliográficos
Autores principales: Müller, Peter, Takacs, Danielle S., Hedrich, Ulrike B. S., Coorg, Rohini, Masters, Laura, Glinton, Kevin E., Dai, Hongzheng, Cokley, Jon A., Riviello, James J., Lerche, Holger, Cooper, Edward C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2023
Materias:
Brief Communications
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10109319/
https://www.ncbi.nlm.nih.gov/pubmed/36793218
http://dx.doi.org/10.1002/acn3.51742

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10109319/
https://www.ncbi.nlm.nih.gov/pubmed/36793218
http://dx.doi.org/10.1002/acn3.51742

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