article_metadata: Yi Dong Yi Zhang Yue Sheng Fang Wang Lv Liu Liang-Liang Fan
article_metadata: 10.3389/fgene.2023.1208540
article_metadata: Front Genet
article_metadata: 2023 Oct 10:14:1208540.
article_metadata: dhdds epilepsy mutation myoclonus whole exome sequencing
article_metadata: CC BY
article_metadata: https://pubmed.ncbi.nlm.nih.gov/37881805/
article_metadata: Case Reports
article_metadata: PMC10597645
article_metadata: 37881805
article_metadata: Case report: Identification of a recurrent pathogenic DHDDS mutation in Chinese family with epilepsy, intellectual disability and myoclonus
article_metadata: 2023