Case Report of Novel Genetic Variant in KCNT1 Channel and Pharmacological Treatment With Quinidine. Precision Medicine in Refractory Epilepsy

Case introduction: In this work we present a female infant patient with epilepsy of infancy with migrating focal seizures (EIMFS). Although many pharmacological schemes were attempted, she developed an encephalopathy with poor response to antiepileptic drugs and progressive cerebral dysfunction. Aim...

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Detalles Bibliográficos
Autores principales: Kravetz, M. C., Viola, M. S., Prenz, J., Curi, M., Bramuglia, G. F., Tenembaum, S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Pharmacology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8194824/
https://www.ncbi.nlm.nih.gov/pubmed/34122071
http://dx.doi.org/10.3389/fphar.2021.648519

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8194824/
https://www.ncbi.nlm.nih.gov/pubmed/34122071
http://dx.doi.org/10.3389/fphar.2021.648519

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