DYNC1H1 variant associated with epilepsy: Expanding the phenotypic spectrum

Chi-Ting Chung; Ni-Chung Lee; Sung-Pin Fan; Miao-Zi Hung; Yen-Heng Lin; Chih-Hao Chen; Tun Jao

doi:10.1016/j.ebr.2022.100580

DYNC1H1 variant associated with epilepsy: Expanding the phenotypic spectrum

Epilepsy Behav Rep. 2022 Dec 28:21:100580. doi: 10.1016/j.ebr.2022.100580. eCollection 2023.

Authors

Chi-Ting Chung^{1

2}, Ni-Chung Lee^{3

4}, Sung-Pin Fan^{1

2}, Miao-Zi Hung⁴, Yen-Heng Lin⁵, Chih-Hao Chen^{1

2}, Tun Jao^{1

2}

Affiliations

¹ Department of Neurology, National Taiwan University Hospital, Taipei, Taiwan.
² Department of Neurology, National Taiwan University, Taipei, Taiwan.
³ Department of Pediatrics and Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan.
⁴ Department of Medical Genetics, National Taiwan University, Taipei, Taiwan.
⁵ Department of Medical Imaging, National Taiwan University, Taipei, Taiwan.

Abstract

DYNC1H1 variants are associated with peripheral neuronal dysfunction and brain morphology abnormalities resulting in neurodevelopmental delay. However, few studies have focused on the association between DYNC1H1 variants and epilepsy. Herein, we report a case of drug-resistant focal epilepsy associated with a pathogenic variant of DYNC1H1. We further summarized the clinical, genetic, and neuroimaging characteristics of patients with DYNC1H1 variant-associated epilepsy from the relevant literature. This report expands the phenotypic spectrum of DYNC1H1-related disorder to include early-onset epilepsy, which is frequently associated with neurodevelopmental delay and intellectual disability, malformations of cortical development, and neuromuscular, ophthalmic, and orthopedic involvement.

Keywords: CMT, Charcot–Marie–Tooth disease; EEG, electroencephalography; Epilepsy; ID, intellectual disability; Intellectual disability; MCD, malformation of cortical development; MRI, magnetic resonance imaging; Malformations of cortical development; Neurodevelopmental delay; Pathogenic DYNC1H1 variant; SMALED, spinal muscular atrophy with lower extremity-predominance.

Publication types

Case Reports