Genotypes and phenotypes of DNM1 encephalopathy
Sign Up to like & getrecommendations! Published in 2023 at "Journal of Medical Genetics"
DOI: 10.1136/jmg-2023-109233
Abstract: Background Variants in the dynamin-1 (DNM1) gene typically cause synaptopathy, leading to developmental and epileptic encephalopathy (DEE). We aimed to determine the genotypic and phenotypic spectrum of DNM1 encephalopathy beyond DEE. Methods Electroclinical phenotyping and… read more here.
Keywords: genotypes phenotypes; phenotypes dnm1; dnm1 encephalopathy; gtpase ... See more keywords