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Article

De novo variants of IRF2BPL result in developmental epileptic disorder.

Orphanet journal of rare diseases - 13 Mar 2024

Wang Yong, Ke Zhongling, Li Yufen, Qiu Mingqi, Liu Jing, Yang Zuozhen, Wen Shu, Liang Mengmeng, Chen Shan

Abstract excerpt

BACKGROUND: Pathogenic variants of the IRF2BPL gene have been reported to cause neurodevelopmental disorders; however, studies focused on IRF2BPL in zebrafish are limited. RESULTS: We reported three probands diagnosed with developmental delay and epilepsy and investigated the role of IRF2BPL in neurodevelopmental disorders in zebrafish. The clinical and genetic characteristics of three patients with...

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Identifiers

PMID: 38481258
DOI: 10.1186/s13023-024-03130-z
PMCID: PMC10938665

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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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