Case Report: Recurrent pathogenic mutation c.110G>A in DHDDS gene

Recent studies have demonstrated the close association of mutations in the dehydrodolichyl diphosphate synthase (DHDDS) gene with neurodevelopmental disorders and the onset of epilepsy. This report describes a female patient harboring a de novo heterozygous variant c.110G>A (p.Arg37His) in the DHDDS gene, characterized by childhood-onset myoclonus-like movement disorder (at age 6) and late-onset epilepsy (at age 17). The movement disorder was remarkably improved through the levetiracetam+ clonaz