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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Principais autores:	M. C. Kravetz, M. S. Viola, J. Prenz, M. Curi, G. F. Bramuglia, S. Tenembaum
Formato:	Artigo
Idioma:	Inglês
Publicado em:	Frontiers Media S.A. 2021-05-01
coleção:	Frontiers in Pharmacology
Assuntos:	epilepsy pharmacogenomics pharmacokinetics precision medicine TDM quinidine
Acesso em linha:	https://www.frontiersin.org/articles/10.3389/fphar.2021.648519/full
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