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
Structural mechanisms of allosteric regulation in the human cis-prenyltransferase complex.
Giladi M et al.
Nature Communications, 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
Surgical decision-making in adult patients with epilepsy related to germline mutations: A single-center study.
Podkorytova I et al.
The Journal of International Medical Research, 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
The natural history of progressive myoclonus ataxia.
van der Veen S et al.
Neurobiology of Disease, 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
Yield of exome sequencing in patients with developmental and epileptic encephalopathies and inconclusive targeted gene panel.
Sedlackova L et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2024
DHDDS and NUS1: A Converging Pathway and Common Phenotype.
Williams LJ et al.
Movement Disorders Clinical Practice, 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
Case report: Identification of a recurrent pathogenic DHDDS mutation in Chinese family with epilepsy, intellectual disability and myoclonus.
Dong Y et al.
Frontiers in Genetics, 2023
Acetazolamide treatment in late onset CDG type 1 due to biallelic pathogenic DHDDS variants.
Mousa J et al.
Molecular Genetics and Metabolism Reports, 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
Systematic analysis of inheritance pattern determination in genes that cause rare neurodevelopmental diseases.
Park S et al.
Frontiers in Genetics, 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
DHDDS related epilepsy--Report of familial cases and review of the literature.
Wood K et al.
Seizure, 2021
A novel variant of dehydrodolichol diphosphate synthase (DHDDS) mutation with adult-onset progressive myoclonus ataxia.
Kim J et al.
Parkinsonism & Related Disorders, 2021
Structural Characterization of Full-Length Human Dehydrodolichyl Diphosphate Synthase Using an Integrative Computational and Experimental Approach.
Lisnyansky Bar-El M et al.
Biomolecules, 2019
Rare Variants in 48 Genes Account for 42% of Cases of Epilepsy With or Without Neurodevelopmental Delay in 246 Pediatric Patients.
Fernández-Marmiesse A et al.
Frontiers in Neuroscience, 2019
Genetic disorders of dolichol synthesis and utilization.
Pieters E et al.
Molecular Genetics and Metabolism, 0