KCNT2-related disorders: phenotypes, functional and pharmacological properties.
Maria Cristina CiocluIlaria MoscaPaolo AmbrosinoDeborah PuzoAllan BayatSaskia B WortmannJohannes KochVincent StrehlowKentaro ShiraiNaomichi MatsumotoStephan J SandersVincent MichaudMarine LegendreAntonella RivaPasquale StrianoHiltrud MuhleManuela PendziwiatGaëtan LescaGiuseppe Donato ManganoRosaria Nardellonull nullJohannes R LemkeRikke Steensjerre MollerMaria Virginia SoldovieriGuido RubboliTaglialatela MaurizioPublished in: Annals of neurology (2023)
We expanded the phenotypic and genotypic spectrum of KCNT2-related disorders, highlighting novel genotype-phenotype associations. Pathogenic KCNT2 variants cause GoF or LoF in vitro phenotypes, and each shows a unique pharmacological profile, suggesting the need for in vitro functional and pharmacological investigation to enable targeted therapies based on the molecular phenotype. This article is protected by copyright. All rights reserved.
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