COL18A1 and epilepsy: While a clinical diagnosis of KS was not applicable due to the absence of typical ocular and occipital defects in affected individuals, our findings, alongside previous research, demonstrate that COL18A1 variants such as c.193G > A (p.Gly65Arg) and c.3150G > A (p.Trp1050Term) are associated with sudden unexpected death in epilepsy [25].