{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,23]],"date-time":"2026-10-23T07:32:38Z","timestamp":1792740758308,"version":"4.5.0"},"reference-count":37,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2023,4,27]],"date-time":"2023-04-27T00:00:00Z","timestamp":1682553600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/100006792","name":"Hartwell Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100006792","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100016783","name":"University of Pennsylvania Health System","doi-asserted-by":"publisher","award":["U54 HD086984"],"award-info":[{"award-number":["U54 HD086984"]}],"id":[{"id":"10.13039\/100016783","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Epilepsia Open"],"published-print":{"date-parts":[[2023,6]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>\n                      <jats:italic>STXBP1<\/jats:italic>\n                      \u2010related disorders are rare genetic epilepsies and neurodevelopmental disorders, but the impact of symptoms across clinical domains is poorly understood. Disease concept models are formal frameworks to assess the lived experience of individuals and their families and provide a basis for generating outcome measures.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      We conducted semistructured, qualitative interviews with 19 caregivers of 16 individuals with\n                      <jats:italic>STXBP1<\/jats:italic>\n                      \u2010related disorders and 7 healthcare professionals. We systematically coded themes using NVivo software and grouped concepts into the domains of symptoms, symptom impact, and caregiver impact. We quantified the frequency of concepts throughout the lifespan and across clinical subgroups stratified by seizure history and developmental trajectories.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>Over 25\u00a0hours of interviews, we coded a total of 3626 references to 38 distinct concepts. In addition to well\u2010recognized clinical features such as developmental delay (n\u00a0=\u00a0240 references), behavior (n\u00a0=\u00a0201), and seizures (n\u00a0=\u00a0147), we identified previously underrepresented symptoms including gastrointestinal (n\u00a0=\u00a068) and respiratory symptoms (n\u00a0=\u00a024) and pain (n\u00a0=\u00a030). The most frequently referenced symptom impacts were autonomy (n\u00a0=\u00a096), socialization (n\u00a0=\u00a064), and schooling (n\u00a0=\u00a061). Emotional impact (n\u00a0=\u00a0354), support (n\u00a0=\u00a0200), and daily life &amp; activities (n\u00a0=\u00a0108) were highly cited caregiver impacts. We found that seizures were more commonly referenced in infancy than in other age groups, while behavior and socialization were more likely to be referred to in childhood. We found that caregivers of individuals with ongoing seizures were less likely to reference developmental delay, possibly due to the relatively high impact of seizures.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Significance<\/jats:title>\n                    <jats:p>\n                      <jats:italic>STXBP1<\/jats:italic>\n                      \u2010related disorders are complex conditions affecting a wide range of clinical and social domains. We comprehensively mapped symptoms and their impact on families to generate a comprehensive disease model as a foundation for clinical endpoints in future trials.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/epi4.12688","type":"journal-article","created":{"date-parts":[[2023,1,10]],"date-time":"2023-01-10T08:55:01Z","timestamp":1673340901000},"page":"320-333","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":32,"title":["A disease concept model for\n                    <i>STXBP1<\/i>\n                    \u2010related disorders"],"prefix":"10.1002","volume":"8","author":[{"given":"Katie R.","family":"Sullivan","sequence":"first","affiliation":[{"name":"Division of Neurology Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"},{"name":"The Epilepsy NeuroGenetics Initiative (ENGIN) Children's Hospital of Philadelphia  Philadelphia Pennsylvania 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NeuroGenetics Initiative (ENGIN) Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mahgenn","family":"Cosico","sequence":"additional","affiliation":[{"name":"Division of Neurology Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"},{"name":"The Epilepsy NeuroGenetics Initiative (ENGIN) Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"},{"name":"Department of Biomedical and Health Informatics (DBHi) Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jackie","family":"Steinberg","sequence":"additional","affiliation":[{"name":"STXBP1 Foundation, Apex  Holly Springs North Carolina USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James","family":"Goss","sequence":"additional","affiliation":[{"name":"STXBP1 Foundation, Apex  Holly Springs North Carolina USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna C.","family":"Pfalzer","sequence":"additional","affiliation":[{"name":"Vanderbilt University  Nashville Tennessee USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kyle J.","family":"Horning","sequence":"additional","affiliation":[{"name":"Vanderbilt University  Nashville Tennessee USA"},{"name":"COMBINEDBrain  Brentwood Tennessee USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicole","family":"Weitzel","sequence":"additional","affiliation":[{"name":"Vanderbilt University  Nashville Tennessee USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sydney","family":"Corey","sequence":"additional","affiliation":[{"name":"Vanderbilt University  Nashville Tennessee USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura","family":"Conway","sequence":"additional","affiliation":[{"name":"Perelman School of Medicine University of Pennsylvania  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