Open AccessAdult‐onset rapidly worsening progressive myoclonic epilepsy caused by a novel variant in DHDDS
Author(s) -
Kim Seondeuk,
Kim Man Jin,
Son Hyoshin,
Hwang Sungeun,
Kang MiKyoung,
Chu Kon,
Lee Sang Kun,
Moon Jangsup
Publication year - 2021
Publication title -
annals of clinical and translational neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.824
H-Index - 42
ISSN - 2328-9503
DOI - 10.1002/acn3.51483
Subject(s) - progressive myoclonus epilepsy , medicine , myoclonus , ataxia , epilepsy , phenotype , disease , myoclonic epilepsy , pediatrics , lafora disease , clinical phenotype , age of onset , progressive disease , genetics , psychiatry , biology , gene , phosphatase , phosphorylation
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 with previously reported phenotypes. We identified DHDDS (c.638G>A, p . Ser213Asn) as a likely pathogenic variant. The literature review revealed 15 PME patients with DHDDS mutations from 13 unrelated families. According to previous studies, late‐onset patients tend to have a slow‐progressive disease course. Although his myoclonus and ataxia were adult onset, our patient experienced rapid disease aggravation.