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Article

Human iPSC-derived glutamatergic neurons with pathogenic KCNQ2 variants display hyperactive bursting phenotypes.

Neurobiology of disease - 1 Nov 2025

Sundberg Maria, Shum Carole, Norabuena Erika M, Makhortova Nina R, Chen Cidi, Yu Lucy, Wightman Emma V, Kim Kristina, Han Sang Yeon, Howe Jennifer, Poduri Annapurna, Buttermore Elizabeth D, Scherer Stephen W, Sahin Mustafa

Abstract excerpt

Pathogenic variants in the KCNQ2 gene, which encodes a potassium channel subunit, are associated with neonatal seizures, epileptic encephalopathy, intellectual disability, and autism. Although the consequences of disrupted KCNQ2 channel function have been studied in the past, the detailed molecular mechanisms underlying the development of neurological phenotypes remain unclear, and neuronal models of specific...

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Identifiers

PMID: 41015095
DOI: 10.1016/j.nbd.2025.107126
PMCID: PMC12745820

Genes

KCNQ2

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