Case report: Identification of a recurrent pathogenic DHDDS mutation in Chinese family with epilepsy, intellectual disability and myoclonus

Case report: Identification of a recurrent pathogenic DHDDS mutation in Chinese family with epilepsy, intellectual disability and myoclonus

Background: Heterozygous mutations in the dehydrodolichol diphosphate synthase (DHDDS) gene are one of the causes generating developmental and epileptic encephalopathies. So far, only eleven mutations in the DHDDS gene have been identified. The mutation spectrum of the DHDDS gene in the Chinese popu...

Full description

Bibliographic Details
Main Authors: Yi Dong, Yi Zhang, Yue Sheng, Fang Wang, Lv Liu, Liang-Liang Fan
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-10-01
Series:Frontiers in Genetics
Subjects:
epilepsy
myoclonus
DHDDS
mutation
whole exome sequencing
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2023.1208540/full

Internet

https://www.frontiersin.org/articles/10.3389/fgene.2023.1208540/full

Similar Items