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Article

Variants in BRWD3 associated with X-linked partial epilepsy without intellectual disability.

CNS neuroscience & therapeutics - 1 Feb 2023

Tian Mao-Qiang, Liu Xiao-Rong, Lin Si-Mei, Wang Jie, Luo Sheng, Gao Liang-Di, Chen Xiao-Bin, Liang Xiao-Yu, Liu Zhi-Gang, He Na, Yi Yong-Hong, Liao Wei-Ping

Abstract excerpt

AIMS: Etiology of the majority patients with idiopathic partial epilepsy (IPE) remains elusive. We thus screened the potential disease-associated variants in the patients with IPE. METHODS: Trios-based whole exome sequencing was performed in a cohort of 320 patients with IPE. Frequency and molecular effects of variants were predicted. RESULTS: Three novel BRWD3 variants were identified in five unrelated cases...

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Identifiers

PMID: 36514184
DOI: 10.1111/cns.14057
PMCID: PMC9873514

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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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