The role of CSNK1A1 and its de novo mutations in infantile spasms syndrome.

ABSTRACT: Infantile spasms syndrome (ISS) is an early-onset epileptic encephalopathy characterized by uncontrollable seizures, severe electroencephalogram abnormalities, as well as delayed cognitive and behavioral development. Independent studies have shown that a variety of genes are involved in ISS and genetic factors play a critical role in its pathogenesis. Here we report two de novo mutations in the casein kinase 1 isoform alpha (CSNK1A1) gene which underlie severe epilepsy with similar clinical presentation in two patients. The identified variants are one missense mutation c.646G > C (p.Ala216Pro, Mut) in NM_001025105.3 and one deletion c.599_604delACATAC (p.His200_Ile201del, Del). In vitro analyses indicated that the Mut causes significant decreases in both mRNA and protein expression, while

SUBMITTER: Ren D 

PROVIDER: S-EPMC12056308 | biostudies-literature | 2025 May

REPOSITORIES: biostudies-literature