DYNC1H1 variant associated with epilepsy: Expanding the phenotypic spectrum
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 associa...
| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | English |
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Elsevier
2023-01-01
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| Series: | Epilepsy & Behavior Reports |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2589986422000570 |
| _version_ | 1811159590999425024 |
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| author | Chi-Ting Chung Ni-Chung Lee Sung-Pin Fan Miao-Zi Hung Yen-Heng Lin Chih-Hao Chen Tun Jao |
| author_facet | Chi-Ting Chung Ni-Chung Lee Sung-Pin Fan Miao-Zi Hung Yen-Heng Lin Chih-Hao Chen Tun Jao |
| author_sort | Chi-Ting Chung |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-04-10T05:43:50Z |
| format | Article |
| id | doaj.art-04230bacb5064f4b88edc37d576d8e32 |
| institution | Directory Open Access Journal |
| issn | 2589-9864 |
| language | English |
| last_indexed | 2024-04-10T05:43:50Z |
| publishDate | 2023-01-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Epilepsy & Behavior Reports |
| spelling | doaj.art-04230bacb5064f4b88edc37d576d8e322023-03-06T04:18:43ZengElsevierEpilepsy & Behavior Reports2589-98642023-01-0121100580DYNC1H1 variant associated with epilepsy: Expanding the phenotypic spectrumChi-Ting Chung0Ni-Chung Lee1Sung-Pin Fan2Miao-Zi Hung3Yen-Heng Lin4Chih-Hao Chen5Tun Jao6Department of Neurology, National Taiwan University Hospital, Taipei, Taiwan; Department of Neurology, National Taiwan University, Taipei, TaiwanDepartment of Pediatrics and Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan; Department of Medical Genetics, National Taiwan University, Taipei, Taiwan; Corresponding authors at: Room 12, 15F, Clinical Research Building, National Taiwan University Hospital, No.7, Chung-Shan S. Rd., Taipei 100225, Taiwan (Tun Jao). Department of Pediatrics, National Taiwan University Hospital, 8 Chung-Shan South Road, Taipei, 10041, Taiwan, (Ni-Chung Lee).Department of Neurology, National Taiwan University Hospital, Taipei, Taiwan; Department of Neurology, National Taiwan University, Taipei, TaiwanDepartment of Medical Genetics, National Taiwan University, Taipei, TaiwanDepartment of Medical Imaging, National Taiwan University, Taipei, TaiwanDepartment of Neurology, National Taiwan University Hospital, Taipei, Taiwan; Department of Neurology, National Taiwan University, Taipei, TaiwanDepartment of Neurology, National Taiwan University Hospital, Taipei, Taiwan; Department of Neurology, National Taiwan University, Taipei, Taiwan; Corresponding authors at: Room 12, 15F, Clinical Research Building, National Taiwan University Hospital, No.7, Chung-Shan S. Rd., Taipei 100225, Taiwan (Tun Jao). Department of Pediatrics, National Taiwan University Hospital, 8 Chung-Shan South Road, Taipei, 10041, Taiwan, (Ni-Chung Lee).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.http://www.sciencedirect.com/science/article/pii/S2589986422000570EpilepsyIntellectual disabilityMalformations of cortical developmentNeurodevelopmental delayPathogenic DYNC1H1 variant |
| spellingShingle | Chi-Ting Chung Ni-Chung Lee Sung-Pin Fan Miao-Zi Hung Yen-Heng Lin Chih-Hao Chen Tun Jao DYNC1H1 variant associated with epilepsy: Expanding the phenotypic spectrum Epilepsy & Behavior Reports Epilepsy Intellectual disability Malformations of cortical development Neurodevelopmental delay Pathogenic DYNC1H1 variant |
| title | DYNC1H1 variant associated with epilepsy: Expanding the phenotypic spectrum |
| title_full | DYNC1H1 variant associated with epilepsy: Expanding the phenotypic spectrum |
| title_fullStr | DYNC1H1 variant associated with epilepsy: Expanding the phenotypic spectrum |
| title_full_unstemmed | DYNC1H1 variant associated with epilepsy: Expanding the phenotypic spectrum |
| title_short | DYNC1H1 variant associated with epilepsy: Expanding the phenotypic spectrum |
| title_sort | dync1h1 variant associated with epilepsy expanding the phenotypic spectrum |
| topic | Epilepsy Intellectual disability Malformations of cortical development Neurodevelopmental delay Pathogenic DYNC1H1 variant |
| url | http://www.sciencedirect.com/science/article/pii/S2589986422000570 |
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