Case report: Identification of a recurrent pathogenic DHDDS mutation in Chinese family with epilepsy, intellectual disability and myoclonus

Background: Heterozygous mutations in the dehydrodolichol diphosphate synthase (DHDDS) gene are one of the causes generating developmental and epileptic encephalopathies. So far, only eleven mutations in the DHDDS gene have been identified. The mutation spectrum of the DHDDS gene in the Chinese popu...

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Detalles Bibliográficos
Autores principales: Dong, Yi, Zhang, Yi, Sheng, Yue, Wang, Fang, Liu, Lv, Fan, Liang-Liang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10597645/
https://www.ncbi.nlm.nih.gov/pubmed/37881805
http://dx.doi.org/10.3389/fgene.2023.1208540

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10597645/
https://www.ncbi.nlm.nih.gov/pubmed/37881805
http://dx.doi.org/10.3389/fgene.2023.1208540

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