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Article

Functional characterization and in vitro pharmacological rescue of KCNQ2 pore mutations associated with epileptic encephalopathy.

Acta pharmacologica Sinica - 1 Aug 2023

Yang Gui-Mei, Tian Fu-Yun, Shen Yan-Wen, Yang Chuan-Yan, Yuan Hui, Li Ping, Gao Zhao-Bing

Abstract excerpt

Mutations in the KCNQ2 gene encoding KV7.2 subunit that mediates neuronal M-current cause a severe form of developmental and epileptic encephalopathy (DEE). Electrophysiological evaluation of KCNQ2 mutations has been proved clinically useful in improving outcome prediction and choosing rational anti-seizure medications (ASMs). In this study we described the clinical characteristics, electrophysiological...

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Identifiers

PMID: 36932231
DOI: 10.1038/s41401-023-01073-y
PMCID: PMC10374643

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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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