Research

Find the latest scientific research and published papers on DHDDS

Published Papers

Case analysis of epilepsy, neurodevelopmental disorder, and motor disorders associated with mutations in the dehydrodolichyl diphosphate synthase gene by By Ting Lv […] Guang-Lu Yang - August 2023
DHDDS Mutation: A Rare Cause of Refractory Epilepsy and Hyperkinetic Movement Disorder by Sahil Mehta, Vivek La. JMD - March 2023
Acetazolamide treatment in late onset CDG type 1 due to biallelic pathogenic DHDDS variants by Jehan Mousa[…]Eva Morava - ScienceDirect, Sept 2022
DHDDS and NUS1: a converging pathway and common phenotype by L. Williams, J. Qiu, S. Waller[...]V. Fung - International Parkinson & Movement Disorder Society, Meeting Abstracts, 2022
Antisense therapies in neurological diseases by Jean-Baptiste Brunet de Courssou[...]Louise-Laure Mariani - Brain, Volume 145, Issue 3, March 2022
Adult-onset rapidly worsening progressive myoclonic epilepsy caused by a novel variant in DHDDS by Seondeuk Kim, Man Jin Kim[…]Jangsup Moon - Wiley Online Library, Nov 2021
De novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus Case Study of 25 Patients by Serena Galosi, Ben H Edani[…]Vincenzo Leuzzi - NIH, Aug 2021
DHDDS related epilepsy–Report of familial cases and review of the literature by Katy Wood, Tara Montgomery, Anita M Devlin - June 2021
Progressive myoclonus epilepsies—Residual unsolved cases have marked genetic heterogeneity including dolichol-dependent protein glycosylation pathway genes by Carolina Courage[…]Anna-Elina Lehesjoki - NIH, April 2021
Lysosomal cholesterol accumulation contributes to the movement phenotypes associated with NUS1 haploinsufficiency - by Heather Flanagan-Steet & Richard Steet - Genetics in Medicine, March 2021
Complex Neurological Phenotype Associated with a De Novo DHDDS Mutation in a Boy with Intellectual Disability, Refractory Epilepsy, and Movement Disorder by Gianluca Piccolo[...]Pasquale Striano - NIH, July 2020
Fifteen-year follow-up of a patient with a DHDDS variant with non-progressive early onset myoclonic tremor and rare generalized epilepsy by Noriko Togashi[…]Kazuhiro Haginova - Brain and Development, July 2020
Epidemiology and etiology of infantile developmental and epileptic encephalopathies in Tasmania by Tyson L. Ware, Samuel F. Berkovic - NIH, July 2019
High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies by Fadi F. Hamdan[…]Jacques L. Michaud - NIH, Nov 2017