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

Progressive myoclonic epilepsy (PME) is a heterogeneous neurogenetic disorder manifesting as progressive myoclonus, seizure, and ataxia. We report a case of PME caused by a novel DHDDS variant. Additionally, by reviewing the literature on DHDDS mutations, we compared the phenotype of our patient wit...

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Detalles Bibliográficos
Autores principales: Kim, Seondeuk, Kim, Man Jin, Son, Hyoshin, Hwang, Sungeun, Kang, Mi‐Kyoung, Chu, Kon, Lee, Sang Kun, Moon, Jangsup
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Case Study
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8670320/
https://www.ncbi.nlm.nih.gov/pubmed/34837344
http://dx.doi.org/10.1002/acn3.51483

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8670320/
https://www.ncbi.nlm.nih.gov/pubmed/34837344
http://dx.doi.org/10.1002/acn3.51483

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