Here, we describe a new case of a currently 18-year-old girl with a developmental disorder, autistic features, epilepsy, and a novel, de novo pathogenic variant of PPP2CA. Based on 16 previously published individuals, the PPP2CA-related disorder has a rather heterogeneous clinical presentation, with mildly to severely affected individuals, and with 15 different reported pathogenic variants dispersed throughout the protein or the gene (Reynhout et al., 2019). Here, PPP2CA is linked to epilepsy.