Associated Papers
Refractory myoclonic epilepsy and progressive movement disorder arising from recurrent DHDDS variants in Japanese patients: a case series.
Kobayashi Y et al.
Brain & Development, 2025
Implementing genomic medicine in clinical practice for adults with undiagnosed rare diseases.
Ahn JH et al.
Npj Genomic Medicine, 2024
39609445 (PubMed )
Supplement: 41525_2024_449_MOESM3_ESM.xlsx › Table_S2
Assessing age of onset and clinical symptoms over time in patients with heterozygous pathogenic DHDDS variants.
Muffels IJJ et al.
Journal of Inherited Metabolic Disease, 2024
Case analysis of epilepsy, neurodevelopmental disorder, and motor disorders associated with mutations in the dehydrodolichyl diphosphate synthase gene.
Lv T et al.
Seizure, 2023
DHDDS Mutation: A Rare Cause of Refractory Epilepsy and Hyperkinetic Movement Disorder.
Mehta S et al.
Journal of Movement Disorders, 2023
De novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus.
Galosi S et al.
Brain : a Journal of Neurology, 2022
Adult-onset rapidly worsening progressive myoclonic epilepsy caused by a novel variant in DHDDS.
Kim S et al.
Annals of Clinical and Translational Neurology, 2021
Genetic disorders of dolichol synthesis and utilization.
Pieters E et al.
Molecular Genetics and Metabolism, 0
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