Exploring the Spectrum of Variants Associated with Developmental Encephalopathy 64: A Case Series and Literature Review.

Background: Rho-related BTB domain-containing protein 2 () is a protein that interacts with cullin-3, a crucial E3 ubiquitin ligase for mitotic cell division. has been linked to early infantile epileptic encephalopathy, autosomal dominant type 64 (OMIM618004), in 34 reported patients.

Methods: We present a case series of seven patients with -related disorders (-RD), including a description of a novel heterozygous variant.