Fifteen-year follow-up of a patient with a DHDDS variant with non-progressive early onset myoclonic tremor and rare generalized epilepsy-Reference-Cited by-同舟云学术

Fifteen-year follow-up of a patient with a DHDDS variant with non-progressive early onset myoclonic tremor and rare generalized epilepsy

Published:2020-10 Issue:9 Volume:42 Page:696-699
ISSN:0387-7604
Container-title:Brain and Development
language:en
Short-container-title:Brain and Development

Author:

Togashi Noriko,Fujita Atsushi,Shibuya Moriei,Uneoka Saki,Miyabayashi Takuya,Sato Ryo,Okubo Yukimune,Endo Wakaba,Inui Takehiko,Jin Kazutaka,Matsumoto Naomichi,Haginoya Kazuhiro

Funder

Japan Agency for Medical Research and Development

JSPS KAKENHI

Ministry of Health, Labor, and Welfare

Takeda Science Foundation

Publisher

Elsevier BV

Subject

Neurology (clinical),Developmental Neuroscience,General Medicine,Pediatrics, Perinatology and Child Health

Reference10 articles.

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2. Identification of de novo CSNK2A1 and CSNK2B variants in cases of global developmental delay with seizures;Nakashima;J Hum Genet,2019

3. Detecting a long insertion variant in SAMD12 by SMRT sequencing: implications of long-read whole-genome sequencing for repeat expansion diseases;Mizuguchi;J Hum Genet,2019

4. Crystal structure of cis-prenyl chain elongating enzyme, undecaprenyl diphosphate synthase;Fujihashi;Proc Natl Acad Sci U S A,2001

5. cis-Prenyltransferase: new insights into protein glycosylation, rubber synthesis, and human diseases;Grabinska;J Biol Chem,2016

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2. Neurophysiological Analysis of Cortical Myoclonic Tremor and Excessive Startle in ARHGEF9 Deficiency;Movement Disorders Clinical Practice;2024-01-31

3. DHDDS and NUS1: A Converging Pathway and Common Phenotype;Movement Disorders Clinical Practice;2023-11-28

4. Case report: Identification of a recurrent pathogenic DHDDS mutation in Chinese family with epilepsy, intellectual disability and myoclonus;Frontiers in Genetics;2023-10-10

5. 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