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Article

An E280K Missense Variant in KCND3/Kv4.3-Case Report and Functional Characterization.

International journal of molecular sciences - 30 Jun 2023

Ågren Richard, Geerdink Niels, Brunner Han G, Paucar Martin, Kamsteeg Erik-Jan, Sahlholm Kristoffer

Abstract excerpt

A five-year-old girl presented with headache attacks, clumsiness, and a history of transient gait disturbances. She and her father, mother, twin sister, and brother underwent neurological evaluation, neuroimaging, and exome sequencing covering 357 genes associated with movement disorders. Sequencing revealed the new variant KCND3 c.838G>A, p.E280K in the father and sisters, but not in the mother and brother....

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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: 37446101
DOI: 10.3390/ijms241310924
PMCID: PMC10341420

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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