Abnormal axonal development and severe epileptic phenotype in Dynamin-1 (DNM1) encephalopathy
Kohei Matsubara1, Ichiro Kuki1, Risako Ishioka1
1Division of Pediatric Neurology, Osaka City General Hospital, Osaka, Japan.
Epileptic Disorders : International Epilepsy Journal with Videotape
|November 27, 2023
Summary
Dynamin-1 (DNM1) mutations cause severe encephalopathy with drug-resistant epilepsy. Neuroimaging reveals delayed myelination and cerebral atrophy, suggesting impaired axonal development due to GABAergic neuron dysfunction.
Area of Science:
- Neuroscience
- Genetics
- Pediatric Neurology
Background:
- Dynamin-1 (DNM1) is crucial for synaptic vesicle recycling.
- Mutations in DNM1 are linked to developmental and epileptic encephalopathy.
- Detailed neuroimaging findings in DNM1 encephalopathy are not well-established.
Conclusions:
- The neuroimaging findings suggest inadequate axonal development in this severe DNM1 encephalopathy case.
- GABAergic neuron dysfunction, stemming from DNM1's role in GABA release, is a likely mechanism for refractory epilepsy.
- GABAergic neuron dysfunction may also underlie the observed white matter abnormalities in DNM1 encephalopathy.
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