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

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...

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Detalles Bibliográficos
Autores principales: Choi, Elaine, Dale, Breanne, RamachandranNair, Rajesh, Ejaz, Resham
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2021
Materias:
Clinical/Scientific Notes
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8356699/
https://www.ncbi.nlm.nih.gov/pubmed/34386584
http://dx.doi.org/10.1212/NXG.0000000000000618

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8356699/
https://www.ncbi.nlm.nih.gov/pubmed/34386584
http://dx.doi.org/10.1212/NXG.0000000000000618

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