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Article

Nine patients with KCNQ2-related neonatal seizures and functional studies of two missense variants.

Scientific reports - 27 Feb 2023

Chokvithaya Suphalak, Caengprasath Natarin, Buasong Aayalida, Jantasuwan Supavadee, Santawong Kanokwan, Leela-Adisorn Netchanok, Tongkobpetch Siraprapa, Ittiwut Chupong, Saengow Vitchayaporn Emarach, Kamolvisit Wuttichart, Boonsimma Ponghatai, Bongsebandhu-Phubhakdi Saknan, Shotelersuk Vorasuk

Abstract excerpt

Mutations in KCNQ2 encoding for voltage-gated K channel subunits underlying the neuronal M-current have been associated with infantile-onset epileptic disorders. The clinical spectrum ranges from self-limited neonatal seizures to epileptic encephalopathy and delayed development. Mutations in KCNQ2 could be either gain- or loss-of-function which require different therapeutic approaches. To better understand...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 36849527
DOI: 10.1038/s41598-023-29924-y
PMCID: PMC9971330

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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