{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["10(11)"],"submitter":["de Pedro Baena S"],"pubmed_abstract":["<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 "],"journal":["Movement disorders clinical practice"],"pagination":["1671-1679"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC10654829"],"repository":["biostudies-literature"],"pubmed_title":["Exploring the Spectrum of <i>RHOBTB2</i> Variants Associated with Developmental Encephalopathy 64: A Case Series and Literature Review."],"pmcid":["PMC10654829"],"pubmed_authors":["Fons C","Ortigoza-Escobar JD","Cerisola A","de Pedro Baena S","Troncoso M","Lopez Pison J","Castro P","Witting S","Barrios A","Sariego Jamardo A","Lopez Gonzalez FJ","Sanchez Carpintero R"],"additional_accession":[]},"is_claimable":false,"name":"Exploring the Spectrum of <i>RHOBTB2</i> Variants Associated with Developmental Encephalopathy 64: A Case Series and Literature Review.","description":"<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 ","dates":{"release":"2023-01-01T00:00:00Z","publication":"2023 Nov","modification":"2026-06-04T11:54:33.508Z","creation":"2025-04-05T18:44:30.743Z"},"accession":"S-EPMC10654829","cross_references":{"pubmed":["37982109"],"doi":["10.1002/mdc3.13880"]}}