PDF(Pubmed)
Abstract：
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.
摘要：
这项研究描述了一名患有进行性肌阵挛性癫痫-11（EPM-11）的患者，遵循由新型SEMA6B变体引起的常染色体显性遗传。大多数患者在婴儿期或青春期发生这种疾病，全身性强直-阵挛性癫痫发作（GTCS），和进行性神经退化。尚未报道成人发作的EPM-11病例。这里,我们介绍了一例成年发作的EPM-11，他经历了步态不稳定，癫痫发作,和认知障碍，藏有一个新颖的错觉变体，c.432C>G（p。C144W)。我们的发现为更好地理解EPM-11的表型和基因型提供了基础。建议进一步的功能研究来阐明这种疾病的发病机理。
