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► Additional supplemental Original researchGenotypes and phenotypes of DNM1Jeehyun Kim,1 Lip-Yuen Teng ,2 Bilal Shaker,3 Dokyun NSoon Sung Kwon ,5 Joon Soo Lee,1,6,7 Heung Dong KimSe Hee Kim 1,6,7related disorABSTRACTWHAT IS ALREAmaterial is published online Background Variants in the dynamin-1 (DNM1) gene only. To view, please visit ⇒ The phenotyptypically cause synaptopathy, leading to developmental the journal online ( alopaand epileptic encephalopathy (DEE). We aimed to doi.org/10.1136/jmg-2023-homogeneoudetermine the genotypic and phenotypic spectrum of 109233).DNM1 encephalopathy beyond DEE.WHAT THIS STU1Department of Pediatrics, Methods Electroclinical phenotyping and genotyping Yonsei University College of ⇒ This study exof patients with a DNM1 variant were conducted for Medicine, Seoul, Korearelated disorpatients undergoing next-generation sequencing at our 2Paediatric Neurology, Hospital disorders, staTunku Azizah, Kuala Lumpur, centre, followed by a systematic review.⇒ A case with aMalaysiaResults Six patients with heterozygous DNM1 variants 3Department of Biomedical region linkingwere identified in our cohort. Three had a typical DEE Engineering, Chung-Ang GTPase effecp

Author

Jeehyun Kim,

Published

2023

Language

EN