A novel SEMA6B variant causes adult-onset progressive myoclonic epilepsy-11 in a Chinese family: A case report and literature review

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

doi:10.3389/fgene.2023.1110310

Frontiers in Genetics (Feb 2023)

A novel SEMA6B variant causes adult-onset progressive myoclonic epilepsy-11 in a Chinese family: A case report and literature review

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

Affiliations

Yirao Chen: Department of Neurology, Xiangya Hospital, Central South University, Changsha, China
Xingyan Yang: Department of Neurology, Central Hospital, Bai Yin, China
Xinxiang Yan: Department of Neurology, Xiangya Hospital, Central South University, Changsha, China
Lu Shen: Department of Neurology, Xiangya Hospital, Central South University, Changsha, China
Lu Shen: National Clinical Research Center for Geriatric Disorders, Xiangya Hospital, Central South University, Changsha, China
Lu Shen: Key Laboratory of Hunan Province in Neurodegenerative Disorders, Central South University, Changsha, China
Lu Shen: Hunan International Scientific and Technological Cooperation Base of Neurodegenerative and Neurogenetic Diseases, Changsha, China
Lu Shen: Engineering Research Center of Hunan Province in Cognitive Impairment Disorders, Central South University, Changsha, China
Lu Shen: Key Laboratory of Organ Injury, Aging and Regenerative Medicine of Hunan Province, Changsha, China
Jifeng Guo: Department of Neurology, Xiangya Hospital, Central South University, Changsha, China
Jifeng Guo: National Clinical Research Center for Geriatric Disorders, Xiangya Hospital, Central South University, Changsha, China
Jifeng Guo: Key Laboratory of Hunan Province in Neurodegenerative Disorders, Central South University, Changsha, China
Jifeng Guo: Centre for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, China
Jifeng Guo: Hunan International Scientific and Technological Cooperation Base of Neurodegenerative and Neurogenetic Diseases, Changsha, China
Jifeng Guo: Engineering Research Center of Hunan Province in Cognitive Impairment Disorders, Central South University, Changsha, China
Qian Xu: Department of Neurology, Xiangya Hospital, Central South University, Changsha, China
Qian Xu: National Clinical Research Center for Geriatric Disorders, Xiangya Hospital, Central South University, Changsha, China
Qian Xu: Key Laboratory of Hunan Province in Neurodegenerative Disorders, Central South University, Changsha, China

DOI: https://doi.org/10.3389/fgene.2023.1110310
Journal volume & issue: Vol. 14

Abstract

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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.

Published in Frontiers in Genetics

ISSN: 1664-8021 (Online)
Publisher: Frontiers Media S.A.
Country of publisher: Switzerland
LCC subjects: Science: Biology (General): Genetics
Website: http://journal.frontiersin.org/journal/genetics

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