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

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Date: May 28, 2021
Publisher: Frontiers Research Foundation
Document Type: Article
Length: 429 words
Lexile Measure: 1870L

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Author(s): M. C. Kravetz, M. S. Viola, J. Prenz, M. Curi, G. F. Bramuglia, S. Tenembaum

<bold>Case introduction:</bold> 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.

<bold>Aim:</bold> To present the pharmacological response and therapeutic drug monitoring of a paediatric patient with a severe encephalopathy carrying a genetic variant in KCNT1 gene, whose identification led to include quinidine (QND) in the treatment regimen as an antiepileptic drug.

<bold>Case report:</bold> Patient showed slow rhythmic activity (theta range) over left...

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Gale Document Number: GALE|A663437231