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DOAJ Open Access 2023

DYNC1H1 variant associated with epilepsy: Expanding the phenotypic spectrum

Chi-Ting Chung Ni-Chung Lee Sung-Pin Fan Miao-Zi Hung Yen-Heng Lin +2 lainnya
Lihat Sumber DOI

Abstrak

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.

Topik & Kata Kunci

Neurology. Diseases of the nervous system Neurophysiology and neuropsychology

Penulis (7)

C

Chi-Ting Chung

N

Ni-Chung Lee

S

Sung-Pin Fan

M

Miao-Zi Hung

Y

Yen-Heng Lin

C

Chih-Hao Chen

T

Tun Jao

Format Sitasi

APA MLA BibTeX
Chung, C., Lee, N., Fan, S., Hung, M., Lin, Y., Chen, C. et al. (2023). DYNC1H1 variant associated with epilepsy: Expanding the phenotypic spectrum. https://doi.org/10.1016/j.ebr.2022.100580

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Informasi Jurnal
Tahun Terbit
2023
Sumber Database
DOAJ
DOI
10.1016/j.ebr.2022.100580
Akses
Open Access ✓