Adult‐onset rapidly worsening progressive myoclonic epilepsy caused by a novel variant in DHDDS-Reference-Cited by-同舟云学术

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Adult‐onset rapidly worsening progressive myoclonic epilepsy caused by a novel variant in DHDDS

Published:2021-11-27 Issue:12 Volume:8 Page:2319-2326
ISSN:2328-9503
Container-title:Annals of Clinical and Translational Neurology
language:en
Short-container-title:Ann. Clin. Transl. Neurol.

Author:

Kim Seondeuk¹²,Kim Man Jin³,Son Hyoshin¹²^ORCID,Hwang Sungeun¹²,Kang Mi‐Kyoung¹²,Chu Kon¹²^ORCID,Lee Sang Kun¹²^ORCID,Moon Jangsup¹²³^ORCID

Affiliation:

1. Department of Neurology Seoul National University Hospital Seoul South Korea

2. Laboratory for Neurotherapeutics Seoul National University Hospital Seoul National University College of Medicine Seoul South Korea

3. Rare Disease Center Department of Genomic Medicine Seoul National University Hospital Seoul South Korea

Funder

Korea Centers for Disease Control and Prevention

Publisher

Wiley

Subject

Neurology (clinical),General Neuroscience

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/acn3.51483

Reference17 articles.

1. Progressive myoclonic epilepsies: a review of genetic and therapeutic aspects

2. High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies

3. Progressive myoclonus epilepsies—Residual unsolved cases have marked genetic heterogeneity including dolichol-dependent protein glycosylation pathway genes

4. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

5. A method and server for predicting damaging missense mutations

Cited by 9 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

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. Progressive Myoclonus Epilepsy: A Scoping Review of Diagnostic, Phenotypic and Therapeutic Advances;Genes;2024-01-27

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. IRF2BPL: A new genotype for progressive myoclonus epilepsies;Epilepsia;2023-03-09

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