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

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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Bibliographic Details
Main Authors: M. C. Kravetz, M. S. Viola, J. Prenz, M. Curi, G. F. Bramuglia, S. Tenembaum
Format: Article
Language:English
Published: Frontiers Media S.A. 2021-05-01
Series:Frontiers in Pharmacology
Subjects:
epilepsy
pharmacogenomics
pharmacokinetics
precision medicine
TDM
quinidine
Online Access:https://www.frontiersin.org/articles/10.3389/fphar.2021.648519/full

Internet

https://www.frontiersin.org/articles/10.3389/fphar.2021.648519/full

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