Pathogenic DNM1 Gene Variant Presenting With Unusually Nonsevere Neurodevelopmental Phenotype: A Case Report.

ABSTRACT:

Background and objectives

To date, all reports of pathogenic variants affecting the GTPase domain of the DNM1 gene have a clinically severe neurodevelopmental phenotype, including severe delays or intractable epilepsy. We describe a case with moderate developmental delays and self-resolved epilepsy.

Methods

The patient was followed by our neurology and genetics teams. After clinical examination and EEG to characterize the patient's presentation, we conducted etiologic workup including brain MRI, chromosomal microarray, genetic and metabolic investigations, and nerve conduction studies. Subsequently, we arranged an Intellectual Disability Plus Trio Panel.

Results

Our patient presented with seizures at 2 days old, requiring phenobarbital. She also had hypotonia,

SUBMITTER: Choi E 

PROVIDER: S-EPMC8356699 | biostudies-literature | 2021 Oct

REPOSITORIES: biostudies-literature