Case analysis of epilepsy, neurodevelopmental disorder, and motor disorders associated with mutations in the dehydrodolichyl diphosphate synthase gene-Reference-Cited by-同舟云学术

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Case analysis of epilepsy, neurodevelopmental disorder, and motor disorders associated with mutations in the dehydrodolichyl diphosphate synthase gene

Published:2023-08 Issue: Volume:110 Page:126-135
ISSN:1059-1311
Container-title:Seizure: European Journal of Epilepsy
language:en
Short-container-title:Seizure: European Journal of Epilepsy

Author:

Lv Ting,Fu Jun-Xian,Liu Xiao-Yang,Tang Rong,Yang Guang-Lu

Funder

National Natural Science Foundation of China

Natural Science Foundation of Inner Mongolia

Inner Mongolia Medical University

Publisher

Elsevier BV

Subject

Neurology (clinical),Neurology,General Medicine

Reference28 articles.

1. Current trends and hotspots in drug-resistant epilepsy research: insights from a bibliometric analysis;Ni;Front Neurol,2022

2. Intelligencequotient (IQ) among children with epilepsy: national epidemiological study - Sudan;Mohamed;Epilepsy Behav,2020

3. Phenotype of heterozygous variants of dehydrodolichol diphosphate synthase;Jiao;Dev Med Child Neurol,2022

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

5. A missense mutation in DHDDS, encoding dehydrodolichyl diphosphate synthase, is associated with autosomal-recessive retinitis pigmentosa in Ashkenazi Jews;Zelinger;Am J Hum Genet,2011

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