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Article

Novel PAK1 variants related to a variable phenotypic spectrum ranging from mild developmental delay to infantile epileptic spasms syndrome.

Seizure - 1 Dec 2025

Wang Ting, Ouyang Shijia, Zou Dongfang, Dong Zeyong, Tan Zeshi, Yang Haipo, Liao Jianxiang, Cao Dezhi, Zhang Yuehua

Abstract excerpt

OBJECTIVE: To identify the novel variants and explore the new phenotypes of patients with PAK1-related disorder. METHODS: Five patients with PAK1 variants were identified by whole-exon sequencing. Damaging effects of variants were analyzed using protein modelling. RESULTS: In this study, 5 patients were identified with 5 de novo PAK1 variants, including p.Ile312Ser, p.Asp407Asn, p.Met453Thr, p.Leu470Pro, and...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 41124873
DOI: 10.1016/j.seizure.2025.10.010

Genes

PAK1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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