{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["13(2)"],"submitter":["Dainelli A"],"pubmed_abstract":["<h4>Background</h4>RALA is a small GTPase from the RAS superfamily implicated in signal transduction and cytoskeletal dynamics. Recently, de novo variants in RALA have been associated with a neurodevelopmental syndrome characterized by intellectual disability (ID), developmental delay (DD), and seizures. So far, only < 12 patients have been reported.<h4>Methods</h4>In this study, we report two novel patients with neurodevelopmental impairment and epilepsy carrying previously unreported RALA variants. We performed a thorough clinical investigation of these patients and performed brain MRI to detect potential abnormalities. Trio-exome sequencing and/or NGS panel testing were conducted to identify the genetic variants. Then, we reviewed previous cases reported in the literature.<h4>Results</h"],"journal":["Molecular genetics & genomic medicine"],"pagination":["e70072"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC11803908"],"repository":["biostudies-literature"],"pubmed_title":["Novel De Novo RALA Missense Variants Expand the Genotype Spectrum of Hiatt-Neu-Cooper Neurodevelopmental Syndrome."],"pmcid":["PMC11803908"],"pubmed_authors":["Dainelli A","Capra V","Mancardi MM","Nosrati MSS","Romano F","Vercellino F","Nigro V","Zara F","Scala M","Torella A"],"additional_accession":[]},"is_claimable":false,"name":"Novel De Novo RALA Missense Variants Expand the Genotype Spectrum of Hiatt-Neu-Cooper Neurodevelopmental Syndrome.","description":"<h4>Background</h4>RALA is a small GTPase from the RAS superfamily implicated in signal transduction and cytoskeletal dynamics. Recently, de novo variants in RALA have been associated with a neurodevelopmental syndrome characterized by intellectual disability (ID), developmental delay (DD), and seizures. So far, only < 12 patients have been reported.<h4>Methods</h4>In this study, we report two novel patients with neurodevelopmental impairment and epilepsy carrying previously unreported RALA variants. We performed a thorough clinical investigation of these patients and performed brain MRI to detect potential abnormalities. Trio-exome sequencing and/or NGS panel testing were conducted to identify the genetic variants. Then, we reviewed previous cases reported in the literature.<h4>Results</h","dates":{"release":"2025-01-01T00:00:00Z","publication":"2025 Feb","modification":"2026-06-01T15:04:32.804Z","creation":"2025-04-06T07:42:48.893Z"},"accession":"S-EPMC11803908","cross_references":{"pubmed":["39918382"],"doi":["10.1002/mgg3.70072"]}}