{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T14:27:04Z","timestamp":1786976824260,"version":"build-2736575974"},"reference-count":26,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2022,9,30]],"date-time":"2022-09-30T00:00:00Z","timestamp":1664496000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2023,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Coffin\u2013Siris syndrome (CSS, MIM135900) is a rare multiple congenital anomaly syndrome caused by pathogenic variants in the BAF complex; up to 28% of patients have previously been reported to have seizures, however, a comprehensive review of epilepsy has not been undertaken in this population. The International CSS Patient Report Database was queried for patients with self\u2010reported seizures, epilepsy, and EEG results. Data gathered included demographic data, pathogenic gene variants, seizure characteristics and treatments, and EEG findings. In addition, a PubMed search was performed using keywords \u201cCoffin\u2013Siris syndrome\u201d and \u201cepilepsy,\u201d \u201cseizures,\u201d or \u201cEEG.\u201d Results from relevant papers are reported. Twenty\u2010four (7.2%) of 334 patients in the database reported having seizures, EEG abnormalities, and\/or epilepsy. Median age of seizure onset was 2. 7\u2009years. Fifteen of the 23 patients with seizures or epilepsy had an\n                    <jats:italic>ARID1B<\/jats:italic>\n                    causative variant. Seventeen patients (5.1%) reported EEG abnormalities, the majority of which were described as focal or multifocal (87.5%). In all but one patient, seizures were controlled on antiseizure medications (ASMs). The literature review yielded 311 unique CSS patients, 82 of which (26.4%) carried diagnoses of seizures or epilepsy. Details on seizure type(s), EEG findings, and response to treatment were limited.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.62979","type":"journal-article","created":{"date-parts":[[2022,9,30]],"date-time":"2022-09-30T05:48:02Z","timestamp":1664516882000},"page":"22-28","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Epilepsy in\n                    <scp>Coffin\u2013Siris<\/scp>\n                    syndrome: A report from the international\n                    <scp>CSS<\/scp>\n                    registry and review of the literature"],"prefix":"10.1002","volume":"191","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8188-7261","authenticated-orcid":false,"given":"Michael","family":"Ciliberto","sequence":"first","affiliation":[{"name":"Stead Family Department of Pediatrics University of Iowa  Iowa City IA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karen","family":"Skjei","sequence":"additional","affiliation":[{"name":"The El Paso Center for Seizures and Epilepsy  El Paso Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ashley","family":"Vasko","sequence":"additional","affiliation":[{"name":"Children's Hospital of the King's Daughters  Norfolk Virginia USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9194-0644","authenticated-orcid":false,"given":"Samantha","family":"Schrier Vergano","sequence":"additional","affiliation":[{"name":"Children's Hospital of the King's Daughters  Norfolk Virginia USA"},{"name":"Eastern Virginia Medical School  Norfolk Virginia USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2022,9,30]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2019.07.019"},{"issue":"7","key":"e_1_2_7_3_1","first-page":"491","article-title":"Coffin\u2010Siris syndrome with Lennox\u2010Gastaut syndrome and hypertrophic cardiomyopathy","volume":"35","author":"Alembik Y.","year":"1988","journal-title":"Annales de pediatrie"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1080\/00221325.2010.506604"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gim.2021.09.017"},{"issue":"5","key":"e_1_2_7_6_1","first-page":"433","article-title":"Mental retardation with absent fifth fingernail and terminal phalanx","volume":"119","author":"Coffin G. 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