Novel Truncating and Missense Variants in SEMA6B in Patients With Early-Onset Epilepsy.

ABSTRACT: Progressive myoclonic epilepsy (PME) is a rare neurodegenerative disease, characterized by myoclonic seizures and tonic clonic seizures, with genetical and phenotypical heterogeneity. The semaphorin 6B (SEMA6B) gene has been recently reported a causal gene of PME. Independent studies are warranted to further support these findings. Here we report that one nonsense variant in NM_032108.3 exon17 c.2056C > T (p.Gln686^∗) and one missense variant in exon14 c.1483G > T (p.Gly495Trp) of SEMA6B, both occurring de novo, underlie early-onset epilepsy with variable severity and different response to treatment in two patients. In vitro analyses have demonstrated that the nonsense variant, p.Gln686^∗, results in a truncated protein with remarkably increa

SUBMITTER: Xiaozhen S 

PROVIDER: S-EPMC8129541 | biostudies-literature | 2021

REPOSITORIES: biostudies-literature