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Article

Progressive Cone-Rod Synaptic Dysfunction in Dynamin-1 ( DNM1 ) Related Developmental and Epileptic Encephalopathy: A Distinct Retinal Phenotype in Human.

Clinical genetics - 1 Aug 2025

Marmoy Oliver R, Hay Eleanor, Bowman Richard, Thompson Dorothy A

Abstract excerpt

Dynamin-1 is an essential enzyme involved in the recycling of synaptic vesicles, in particular in the scission of endocytic buds within the pre-synaptic terminal. Heterozygous pathogenic variants in DNM1 result in Developmental and Epileptic Encephalopathy type 31A, where patients exhibit early onset refractory epilepsy, severe-profound intellectual disability and poor visual behaviour. We present data...

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Identifiers

PMID: 39925045
DOI: 10.1111/cge.14724
PMCID: PMC12215225

Genes

DNM1
ERG

Variants

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Progressive Cone-Rod Synaptic Dysfunction in Dynamin-1 ( DNM1 ) Related Developmental and Epileptic Encephalopathy: A Distinct Retinal Phenotype in Human.PMID 39925045Read ↗

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