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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Váldodahkkit:	M. C. Kravetz, M. S. Viola, J. Prenz, M. Curi, G. F. Bramuglia, S. Tenembaum
Materiálatiipa:	Artigo
Giella:	Inglês
Almmustuhtton:	Frontiers Media S.A. 2021-05-01
Ráidu:	Frontiers in Pharmacology
Fáttát:	epilepsy pharmacogenomics pharmacokinetics precision medicine TDM quinidine
Liŋkkat:	https://www.frontiersin.org/articles/10.3389/fphar.2021.648519/full
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