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Article

Functional and pharmacological investigation of novel and de novo KCND3 variants identified in patients with neurodevelopmental disorders.

Journal of human genetics - 1 Apr 2026

Tserenlkham Byambajav, Takayama Koichiro, Zankov Dimitar P, Gallentine William B, Cuddapah Vishnu Anand, Cohen Stacey, Sonoda Keiko, Horie Minoru, Ohno Seiko

Abstract excerpt

Sudden unexpected death in epilepsy (SUDEP) is one of the most frequent causes of death in patients with epilepsy, though the pathogenesis of SUDEP has not been well elucidated. Here, we report novel heterozygous KCND3 variants, p.V401L and p.V401M, identified in young patients with refractory epilepsy (RE) and neurodevelopmental disorders, and the functional properties of these variants. We aimed to investigate...

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Identifiers

PMID: 41188451
DOI: 10.1038/s10038-025-01423-0

Genes

KCND3

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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