{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"submitter":["Xian J"],"funding":["NICHD NIH HHS","NCATS NIH HHS","NINDS NIH HHS"],"pubmed_abstract":["<i>STXBP1</i>-related disorders are among the most common genetic epilepsies and neurodevelopmental disorders. However, the longitudinal epilepsy course and developmental endpoints have not yet been described in detail, which is a critical prerequisite for clinical trial readiness. Here, we assessed 1,281 cumulative patient-years of seizure and developmental histories in 162 individuals with <i>STXBP1</i>-related disorders and established a natural history framework. <i>STXBP1</i>-related disorders are characterized by a dynamic pattern of seizures in the first year of life and high variability in neurodevelopmental trajectories in early childhood. Epilepsy onset differed across seizure types, with 90% cumulative onset for infantile spasms by 6 months and focal-onset seizures by 27 months "],"journal":["medRxiv : the preprint server for health sciences"],"pagination":["2023.05.10.23289776"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC10197795"],"repository":["biostudies-literature"],"pubmed_title":["Delineating clinical and developmental outcomes in <i>STXBP1</i>-related disorders."],"pmcid":["PMC10197795"],"funding_grant_id":["R01 NS131512","K02 NS112600","R01 NS127830","U54 HD086984","UL1 TR001878"],"pubmed_authors":["McKee J","Prosser B","Cunningham K","Thalwitzer KM","Kaufman MC","Rigby CS","Goss J","Fitch E","Pierce SR","Ruggiero SM","Sullivan KR","Helbig I","Boland M","Syrbe S","Xian J","Toib J","Fitter N","Brimble E","deCampo D"],"additional_accession":[]},"is_claimable":false,"name":"Delineating clinical and developmental outcomes in <i>STXBP1</i>-related disorders.","description":"<i>STXBP1</i>-related disorders are among the most common genetic epilepsies and neurodevelopmental disorders. However, the longitudinal epilepsy course and developmental endpoints have not yet been described in detail, which is a critical prerequisite for clinical trial readiness. Here, we assessed 1,281 cumulative patient-years of seizure and developmental histories in 162 individuals with <i>STXBP1</i>-related disorders and established a natural history framework. <i>STXBP1</i>-related disorders are characterized by a dynamic pattern of seizures in the first year of life and high variability in neurodevelopmental trajectories in early childhood. Epilepsy onset differed across seizure types, with 90% cumulative onset for infantile spasms by 6 months and focal-onset seizures by 27 months ","dates":{"release":"2023-01-01T00:00:00Z","publication":"2023 May","modification":"2025-04-22T13:56:30.937Z","creation":"2025-04-06T00:51:57.143Z"},"accession":"S-EPMC10197795","cross_references":{"pubmed":["37215006"],"doi":["10.1101/2023.05.10.23289776"]}}