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Article

Neurodevelopmental disorder caused by a truncating de novo variant of IRF2BPL.

Seizure - 1 Jan 2021

Qian Xiao-Hang, Liu Xiao-Ying, Zhu Ze-Yu, Wang Shi-Ge, Song Xiao-Xuan, Chen Guang, Wu Jing-Ying, Tang Hui-Dong, Cao Li

Abstract excerpt

BACKGROUND: Mutations in the IRF2BPL gene can cause neurodevelopmental disorders. We describe the clinical and genetic characteristics of a Chinese patient with a novel abnormality in this gene, explore the potential pathogenic mechanism and summarize the clinical characteristics of 25 patients with IRF2BPL mutations. METHODS: We identified the gene mutation sites by whole-exome and Sanger sequencing. The...

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Identifiers

PMID: 33278788
DOI: 10.1016/j.seizure.2020.11.006

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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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