Article

DNM1-related disorder is characterized by recurrent variants and phenotypic homogeneity

2026-04-06

Abstract excerpt

<h4>Purpose</h4> DNM1 -related disorder is a rare developmental and epileptic encephalopathy. The current understanding of the clinical spectrum is based on sparse patient descriptions. Here, we compile the largest DNM1 cohort to date, to characterize the genotypic and phenotypic landscape of the disorder. <h4>Methods</h4> Phenotypic data was manually curated from 95 individuals from multiple sources and harmo...

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Literature Corpus work: 0e68cbfc-8b36-50e0-914c-173d939f91d7
DOI: 10.64898/2026.04.05.26350183

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