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Article

Clinical Manifestations and Genetic Insights Into Congenital Myasthenic Syndrome-22 in Pediatric Patients.

Pediatric neurology - 1 Mar 2026

Wang Tianshuang, Zhou Shuizhen, Li Wenhui

Abstract excerpt

BACKGROUND: The study aimed to identify the manifestation of isolated Prolyl endopeptidase-like (PREPL) deficiency in children to aid in diagnosis and early intervention. METHODS: We performed a retrospective cohort study, including five children genetically confirmed with PREPL gene mutations. Clinical features, genotypes, and treatment responses were analyzed. RESULTS: The study involved four girls and one boy....

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 41547082
DOI: 10.1016/j.pediatrneurol.2025.12.027

Genes

PREPL

Provenance

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

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