{Reference Type}: Case Reports
{Title}: A novel SEMA6B variant causes adult-onset progressive myoclonic epilepsy-11 in a Chinese family: A case report and literature review.
{Author}: Chen Y;Yang X;Yan X;Shen L;Guo J;Xu Q;
{Journal}: Front Genet
{Volume}: 14
{Issue}: 0
{Year}: 2023
{Factor}: 4.772
{DOI}: 10.3389/fgene.2023.1110310
{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.