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Article

Clinical phenotype spectrum and prognostic analysis of DNM1L-related disorders: a single-center cohort study of 18 patients.

Frontiers in neurology - 1 Jan 2026

Xu Han, Xu Chaolong, Zou Ying, Duan Xin, Song Minhan, Han Xiaodi, Song Tianyu, Liu Yang, Fang Fang

Abstract excerpt

Aims: To summarize the clinical and genetic characteristics of DNM1L-related disorders and explore genotype-phenotype correlations and prognosis. Methods: We retrospectively analyzed clinical data from 18 children with DNM1L variants diagnosed between 2015 and October 2025. Combined with systematic literature review (2007-October 2025) to analyze reported DNM1L variant types and clinical phenotypes. Results: The...

Read the complete abstract on PubMed

Topics

Humans
Female
Male
Child, Preschool
Phenotype
Prognosis
Child

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Retrospective Studies

Epilepsy

Genetic Association Studies

Infant

Cohort Studies

Dystonia

Dynamin I

Dynamins

Source

Open in PubMed Open full text

Identifiers

PMID: 42687971
DOI: 10.3389/fneur.2026.1791244
PMCID: PMC13533661

Genes

DNM1L

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 21 Oct 2026.

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