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
Mono-allelic p.R37H Dehydrodolichyl Diphosphate Synthase variants lead to protein glycosylation defects, aberrant lipid profiles and interneuron scarcity in a novel mouse model of progressive epileptic encephalopathy.
Da Silva A et al.
Biorxiv : the Preprint Server for Biology, 2025
DHDDS-related disease; biallelic missense novel variant causing major severity with an early-onset epilepsy and hyperkinetic movement disorder.
Gazeteci Tekin H et al.
The International Journal of Neuroscience, 2025
Niemann-Pick C-like Endolysosomal Dysfunction in DHDDS Patient Cells, a Congenital Disorder of Glycosylation, Can Be Treated with Miglustat.
Best HL et al.
International Journal of Molecular Sciences, 2025
DHDDS-related epilepsy with hippocampal atrophy: a case report.
de Oliveira Franco Á et al.
Neurogenetics, 2024
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
Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.
Pejaver V et al.
American Journal of Human Genetics, 2022
De novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus.
Galosi S et al.
Brain : a Journal of Neurology, 2022
Phenotype of heterozygous variants of dehydrodolichol diphosphate synthase.
Jiao X et al.
Developmental Medicine and Child Neurology, 2022
Progressive Myoclonus Epilepsies: Diagnostic Yield With Next-Generation Sequencing in Previously Unsolved Cases.
Canafoglia L et al.
Neurology. Genetics, 2021
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
DHDDS related epilepsy--Report of familial cases and review of the literature.
Wood K et al.
Seizure, 2021
Genetic disorders of dolichol synthesis and utilization.
Pieters E et al.
Molecular Genetics and Metabolism, 0