biostudies-literatureUnknown10(11)de Pedro Baena S<h4>Background</h4>Rho-related BTB domain-containing protein 2 (<i>RHOBTB2</i>) is a protein that interacts with cullin-3, a crucial E3 ubiquitin ligase for mitotic cell division. <i>RHOBTB2</i> has been linked to early infantile epileptic encephalopathy, autosomal dominant type 64 (OMIM618004), in 34 reported patients.<h4>Methods</h4>We present a case series of seven patients with <i>RHOBTB2</i>-related disorders (<i>RHOBTB2</i>-RD), including a description of a novel heterozygous variant. We also reviewed previously published cases of <i>RHOBTB2</i>-RD.<h4>Results</h4>The seven patients had ages ranging from 2 years and 8 months to 26 years, and all had experienced seizures before the age of one (onset, 4-12 months, median, 4 months), including various types of seizures. All patients in Movement disorders clinical practice1671-1679https://www.ebi.ac.uk/biostudies/studies/S-EPMC10654829biostudies-literatureExploring the Spectrum of <i>RHOBTB2</i> Variants Associated with Developmental Encephalopathy 64: A Case Series and Literature Review.PMC10654829Fons COrtigoza-Escobar JDCerisola Ade Pedro Baena STroncoso MLopez Pison JCastro PWitting SBarrios ASariego Jamardo ALopez Gonzalez FJSanchez Carpintero RfalseExploring the Spectrum of <i>RHOBTB2</i> Variants Associated with Developmental Encephalopathy 64: A Case Series and Literature Review.<h4>Background</h4>Rho-related BTB domain-containing protein 2 (<i>RHOBTB2</i>) is a protein that interacts with cullin-3, a crucial E3 ubiquitin ligase for mitotic cell division. <i>RHOBTB2</i> has been linked to early infantile epileptic encephalopathy, autosomal dominant type 64 (OMIM618004), in 34 reported patients.<h4>Methods</h4>We present a case series of seven patients with <i>RHOBTB2</i>-related disorders (<i>RHOBTB2</i>-RD), including a description of a novel heterozygous variant. We also reviewed previously published cases of <i>RHOBTB2</i>-RD.<h4>Results</h4>The seven patients had ages ranging from 2 years and 8 months to 26 years, and all had experienced seizures before the age of one (onset, 4-12 months, median, 4 months), including various types of seizures. All patients in 2023-01-01T00:00:00Z2023 Nov2026-06-04T11:54:33.508Z2025-04-05T18:44:30.743ZS-EPMC106548293798210910.1002/mdc3.13880