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Modeling Mitochondrial Disease Using Brain Organoids: A Focus on Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like Episodes

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Refining Domain-Based Prognostication in DNM1 Encephalopathy: A Mild Phenotype Associated With a GTPase Domain

Caroline Crain¹, Hope Northrup¹, Laura S Farach¹

¹Division of Medical Genetics, Department of Pediatrics, McGovern Medical School at UTHealth Houston, Houston, Texas, USA.

American Journal of Medical Genetics. Part A

|June 12, 2026

Summary

DNM1 encephalopathy, a rare genetic disorder, presents a wider spectrum of severity than previously known. A new case highlights milder symptoms, expanding our understanding of this condition.

Area of Science:

Genetics
Neurology
Rare Diseases

Background:

DNM1 encephalopathy is a rare autosomal dominant genetic disorder.

Keywords:

DNM1 autism dynamin1 epilepsy intellectual disability neurodevelopmental disability

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It typically causes severe neurological and developmental issues, including intellectual disability and epilepsy.

Milder presentations are increasingly recognized, indicating an incompletely defined phenotypic spectrum.