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[Analysis of KCNA2 gene variant in a Chinese pedigree affected with developmental and epileptic encephalopathy].

10 Aug 2026

Abstract excerpt

OBJECTIVE: To carry out whole-genome sequencing (WGS) for a woman with epilepsy who was previously tested negative by panel sequencing. METHODS: A female patient and her family members (8 individuals from 3 generations) who had presented at the Affiliated Hospital of Reproductive Medicine of Shandong University in August 2024 were selected as study subjects. WGS was carried out for the pedigree. Candidate variant...

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PMID: 42386661
DOI: 10.3760/cma.j.cn511374-20260324-00138

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

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