De Novo Variants in KCNA3 Cause Developmental and Epileptic Encephalopathy.

Maria Virginia SoldovieriPaolo AmbrosinoIlaria MoscaIlenio ServettiniFrancesca PietruntiGiorgio Belperionull nullSteffen SyrbeTaglialatela MaurizioJohannes R Lemke

Published in: Annals of neurology (2023)

We describe a novel association of de novo missense variants in KCNA3 with a human DEE, and provide evidence that fluoxetine might represent a potential targeted treatment for individuals carrying variants with significant GoF effects. This article is protected by copyright. All rights reserved.

Keyphrases

copy number
endothelial cells
intellectual disability
cancer therapy
induced pluripotent stem cells
gene expression
dna methylation
genome wide
autism spectrum disorder
combination therapy