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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Autori principali:	M. C. Kravetz, M. S. Viola, J. Prenz, M. Curi, G. F. Bramuglia, S. Tenembaum
Natura:	Artigo
Lingua:	Inglês
Pubblicazione:	Frontiers Media S.A. 2021-05-01
Serie:	Frontiers in Pharmacology
Soggetti:	epilepsy pharmacogenomics pharmacokinetics precision medicine TDM quinidine
Accesso online:	https://www.frontiersin.org/articles/10.3389/fphar.2021.648519/full
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