Case Report: Targeted treatment by fluoxetine/norfluoxetine of a KCNC2 variant causing developmental and epileptic encephalopathy

Case Report: Targeted treatment by fluoxetine/norfluoxetine of a KCNC2 variant causing developmental and epileptic encephalopathy

The Kv3.2 subfamily of voltage activated potassium channels encoded by the KCNC2 gene is abundantly expressed in neurons that fire trains of fast action potentials that are a major source of cortical inhibition. Gain-of-function (GOF) de novo pathogenic variants in KCNC1 and KCNC2, encoding Kv3.1 an...

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Bibliographic Details
Main Authors: Ping Li, Alice Butler, Yu Zhou, Karl L. Magleby, Christina A. Gurnett, Lawrence Salkoff
Format: Article
Language:English
Published: Frontiers Media S.A. 2025-01-01
Series:Frontiers in Pharmacology
Subjects:
Prozac
fluoxetine
norfluoxetine 4-fluoro-7-nitro-2,1,3-benzoxadiazole
potassium channel
epilepsy
autism
Online Access:https://www.frontiersin.org/articles/10.3389/fphar.2024.1528541/full
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