{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Thalwitzer KM"],"funding":["Institute for Translational Medicine and Therapeutics","Eunice Kennedy Shriver National Institute of Child Health and Human Development","NCATS NIH HHS","NICHD NIH HHS","Deutsche Forschungsgemeinschaft","NINDS NIH HHS","Hartwell Foundation"],"pagination":["805-816"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC11458141"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["65(3)"],"pubmed_abstract":["<h4>Objective</h4>Individuals with disease-causing variants in STXBP1 frequently have epilepsy onset in the first year of life with a variety of seizure types, including epileptic spasms. However, the impact of early onset seizures and antiseizure medication (ASM) on the risk of developing epileptic spasms and impact on their trajectory are poorly understood, limiting informed and anticipatory treatment, as well as trial design.<h4>Methods</h4>We retrospectively reconstructed seizure and medication histories in weekly intervals for individuals with STXBP1 developmental and epileptic encephalopathy (DEE) with epilepsy onset in the first year of life and quantitatively analyzed longitudinal seizure histories and medication response.<h4>Results</h4>We included 61 individuals with early onset "],"journal":["Epilepsia"],"pubmed_title":["Early life seizures and epileptic spasms in STXBP1-related disorders."],"pmcid":["PMC11458141"],"funding_grant_id":["R01 NS131512","K02 NS112600","HE5415/5–1","HE5415/6–1","HE5415/3‐1","R01 NS127830","U54 HD086984","UL1 TR001878"],"pubmed_authors":["Prosser B","de Campo D","Thalwitzer KM","Rigby CS","Goss J","Ruggiero SM","Sullivan KR","Parthasarathy S","Helbig I","Boland M","Syrbe S","Xian J","Magielski J"],"additional_accession":[]},"is_claimable":false,"name":"Early life seizures and epileptic spasms in STXBP1-related disorders.","description":"<h4>Objective</h4>Individuals with disease-causing variants in STXBP1 frequently have epilepsy onset in the first year of life with a variety of seizure types, including epileptic spasms. However, the impact of early onset seizures and antiseizure medication (ASM) on the risk of developing epileptic spasms and impact on their trajectory are poorly understood, limiting informed and anticipatory treatment, as well as trial design.<h4>Methods</h4>We retrospectively reconstructed seizure and medication histories in weekly intervals for individuals with STXBP1 developmental and epileptic encephalopathy (DEE) with epilepsy onset in the first year of life and quantitatively analyzed longitudinal seizure histories and medication response.<h4>Results</h4>We included 61 individuals with early onset ","dates":{"release":"2024-01-01T00:00:00Z","publication":"2024 Mar","modification":"2025-04-03T23:13:59.576Z","creation":"2025-04-03T23:13:59.576Z"},"accession":"S-EPMC11458141","cross_references":{"pubmed":["38279907"],"doi":["10.1111/epi.17886"]}}