A novel SEMA6B variant causes adult-onset progressive myoclonic epilepsy-11 in a Chinese family: A case report and literature review
This study describes a patient with progressive myoclonic epilepsy-11 (EPM-11), which follows autosomal dominant inheritance caused by a novel SEMA6B variant. Most patients develop this disease during infancy or adolescence with action myoclonus, generalized tonic-clonic seizures (GTCS), and progres...
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| Format: | Article |
| Language: | English |
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Frontiers Media S.A.
2023-02-01
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| Series: | Frontiers in Genetics |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fgene.2023.1110310/full |
| _version_ | 1797924620217614336 |
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| author | Yirao Chen Xingyan Yang Xinxiang Yan Lu Shen Lu Shen Lu Shen Lu Shen Lu Shen Lu Shen Jifeng Guo Jifeng Guo Jifeng Guo Jifeng Guo Jifeng Guo Jifeng Guo Qian Xu Qian Xu Qian Xu |
| author_facet | Yirao Chen Xingyan Yang Xinxiang Yan Lu Shen Lu Shen Lu Shen Lu Shen Lu Shen Lu Shen Jifeng Guo Jifeng Guo Jifeng Guo Jifeng Guo Jifeng Guo Jifeng Guo Qian Xu Qian Xu Qian Xu |
| author_sort | Yirao Chen |
| collection | DOAJ |
| description | This study describes a patient with progressive myoclonic epilepsy-11 (EPM-11), which follows autosomal dominant inheritance caused by a novel SEMA6B variant. Most patients develop this disease during infancy or adolescence with action myoclonus, generalized tonic-clonic seizures (GTCS), and progressive neurological deterioration. No cases of adult-onset EPM-11 have been reported yet. Here, we present one case of adult-onset EPM-11 who experienced gait instability, seizures, and cognitive impairment, and harbored a novel missense variant, c.432C>G (p.C144W). Our findings provide a foundation for a better understanding of the phenotypic and genotypic profiles of EPM-11. Further functional studies are recommended to elucidate the pathogenesis of this disease. |
| first_indexed | 2024-04-10T15:04:51Z |
| format | Article |
| id | doaj.art-00e7847e23894ee590e402bb9cf3dc12 |
| institution | Directory Open Access Journal |
| issn | 1664-8021 |
| language | English |
| last_indexed | 2024-04-10T15:04:51Z |
| publishDate | 2023-02-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Genetics |
| spelling | doaj.art-00e7847e23894ee590e402bb9cf3dc122023-02-15T05:19:54ZengFrontiers Media S.A.Frontiers in Genetics1664-80212023-02-011410.3389/fgene.2023.11103101110310A novel SEMA6B variant causes adult-onset progressive myoclonic epilepsy-11 in a Chinese family: A case report and literature reviewYirao Chen0Xingyan Yang1Xinxiang Yan2Lu Shen3Lu Shen4Lu Shen5Lu Shen6Lu Shen7Lu Shen8Jifeng Guo9Jifeng Guo10Jifeng Guo11Jifeng Guo12Jifeng Guo13Jifeng Guo14Qian Xu15Qian Xu16Qian Xu17Department of Neurology, Xiangya Hospital, Central South University, Changsha, ChinaDepartment of Neurology, Central Hospital, Bai Yin, ChinaDepartment of Neurology, Xiangya Hospital, Central South University, Changsha, ChinaDepartment of Neurology, Xiangya Hospital, Central South University, Changsha, ChinaNational Clinical Research Center for Geriatric Disorders, Xiangya Hospital, Central South University, Changsha, ChinaKey Laboratory of Hunan Province in Neurodegenerative Disorders, Central South University, Changsha, ChinaHunan International Scientific and Technological Cooperation Base of Neurodegenerative and Neurogenetic Diseases, Changsha, ChinaEngineering Research Center of Hunan Province in Cognitive Impairment Disorders, Central South University, Changsha, ChinaKey Laboratory of Organ Injury, Aging and Regenerative Medicine of Hunan Province, Changsha, ChinaDepartment of Neurology, Xiangya Hospital, Central South University, Changsha, ChinaNational Clinical Research Center for Geriatric Disorders, Xiangya Hospital, Central South University, Changsha, ChinaKey Laboratory of Hunan Province in Neurodegenerative Disorders, Central South University, Changsha, ChinaCentre for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, ChinaHunan International Scientific and Technological Cooperation Base of Neurodegenerative and Neurogenetic Diseases, Changsha, ChinaEngineering Research Center of Hunan Province in Cognitive Impairment Disorders, Central South University, Changsha, ChinaDepartment of Neurology, Xiangya Hospital, Central South University, Changsha, ChinaNational Clinical Research Center for Geriatric Disorders, Xiangya Hospital, Central South University, Changsha, ChinaKey Laboratory of Hunan Province in Neurodegenerative Disorders, Central South University, Changsha, ChinaThis study describes a patient with progressive myoclonic epilepsy-11 (EPM-11), which follows autosomal dominant inheritance caused by a novel SEMA6B variant. Most patients develop this disease during infancy or adolescence with action myoclonus, generalized tonic-clonic seizures (GTCS), and progressive neurological deterioration. No cases of adult-onset EPM-11 have been reported yet. Here, we present one case of adult-onset EPM-11 who experienced gait instability, seizures, and cognitive impairment, and harbored a novel missense variant, c.432C>G (p.C144W). Our findings provide a foundation for a better understanding of the phenotypic and genotypic profiles of EPM-11. Further functional studies are recommended to elucidate the pathogenesis of this disease.https://www.frontiersin.org/articles/10.3389/fgene.2023.1110310/fullprogressive myoclonic epilepsyadult onsetSEMA6Bmissense variantcase report |
| spellingShingle | Yirao Chen Xingyan Yang Xinxiang Yan Lu Shen Lu Shen Lu Shen Lu Shen Lu Shen Lu Shen Jifeng Guo Jifeng Guo Jifeng Guo Jifeng Guo Jifeng Guo Jifeng Guo Qian Xu Qian Xu Qian Xu A novel SEMA6B variant causes adult-onset progressive myoclonic epilepsy-11 in a Chinese family: A case report and literature review Frontiers in Genetics progressive myoclonic epilepsy adult onset SEMA6B missense variant case report |
| title | A novel SEMA6B variant causes adult-onset progressive myoclonic epilepsy-11 in a Chinese family: A case report and literature review |
| title_full | A novel SEMA6B variant causes adult-onset progressive myoclonic epilepsy-11 in a Chinese family: A case report and literature review |
| title_fullStr | A novel SEMA6B variant causes adult-onset progressive myoclonic epilepsy-11 in a Chinese family: A case report and literature review |
| title_full_unstemmed | A novel SEMA6B variant causes adult-onset progressive myoclonic epilepsy-11 in a Chinese family: A case report and literature review |
| title_short | A novel SEMA6B variant causes adult-onset progressive myoclonic epilepsy-11 in a Chinese family: A case report and literature review |
| title_sort | novel sema6b variant causes adult onset progressive myoclonic epilepsy 11 in a chinese family a case report and literature review |
| topic | progressive myoclonic epilepsy adult onset SEMA6B missense variant case report |
| url | https://www.frontiersin.org/articles/10.3389/fgene.2023.1110310/full |
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