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Article

KCNT2-Related Disorders: Phenotypes, Functional, and Pharmacological Properties.

Annals of neurology - 1 Aug 2023

Cioclu Maria Cristina, Mosca Ilaria, Ambrosino Paolo, Puzo Deborah, Bayat Allan, Wortmann Saskia B, Koch Johannes, Strehlow Vincent, Shirai Kentaro, Matsumoto Naomichi, Sanders Stephan J, Michaud Vincent, Legendre Marine, Riva Antonella, Striano Pasquale, Muhle Hiltrud, Pendziwiat Manuela, Lesca Gaetan, Mangano Giuseppe Donato, Nardello Rosaria, Lemke Johannes R, Møller Rikke S, Soldovieri Maria Virginia, Rubboli Guido, Taglialatela Maurizio

Abstract excerpt

OBJECTIVE: Pathogenic variants in KCNT2 are rare causes of developmental epileptic encephalopathy (DEE). We herein describe the phenotypic and genetic features of patients with KCNT2-related DEE, and the in vitro functional and pharmacological properties of KCNT2 channels carrying 14 novel or previously untested variants. METHODS: Twenty-five patients harboring KCNT2 variants were investigated: 12 were identified...

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Genomics and Rare Diseases
Genotype
HEK293 Cells
Intellectual Disability

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Ion channel regulation and function

Potassium Channels, Sodium-Activated

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Identifiers

PMID: 37062836
DOI: 10.1002/ana.26662
PMCID: PMC13007567

Genes

KCNT2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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