DHDDS related epilepsy––Report of familial cases and review of the literature
Author:
Publisher
Elsevier BV
Subject
Neurology (clinical),Neurology,General Medicine
Reference4 articles.
1. Progressive myoclonus epilepsies-Residual unsolved cases have marked genetic heterogeneity including dolichol-dependent protein glycosylation pathway genes;Courage;Am J Hum Genet,2021
2. High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies;Hamdan;Am J Hum Genet,2017
3. Fifteen-year follow-up of a patient with a DHDDS variant with non-progressive early onset myoclonic tremor and rare generalized epilepsy;Togashi;Brain Dev.,2020
4. Epidemiology and etiology of infantile developmental and epileptic encephalopathies in Tasmania;Ware;Epilepsia Open,2019
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1. DHDDS -related disease; biallelic missense novel variant causing major severity with an early-onset epilepsy and hyperkinetic movement disorder;International Journal of Neuroscience;2024-03-19
2. DHDDS and NUS1: A Converging Pathway and Common Phenotype;Movement Disorders Clinical Practice;2023-11-28
3. Case report: Identification of a recurrent pathogenic DHDDS mutation in Chinese family with epilepsy, intellectual disability and myoclonus;Frontiers in Genetics;2023-10-10
4. Case analysis of epilepsy, neurodevelopmental disorder, and motor disorders associated with mutations in the dehydrodolichyl diphosphate synthase gene;Seizure: European Journal of Epilepsy;2023-08
5. DHDDS Mutation: A Rare Cause of Refractory Epilepsy and Hyperkinetic Movement Disorder;Journal of Movement Disorders;2023-01-31
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