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