{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,17]],"date-time":"2026-09-17T12:24:30Z","timestamp":1789647870505,"version":"4.0.0"},"reference-count":28,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2016,8,24]],"date-time":"2016-08-24T00:00:00Z","timestamp":1471996800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100005627","name":"Thrasher Research Fund","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100005627","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Epilepsia"],"published-print":{"date-parts":[[2016,10]]},"abstract":"<jats:title>Summary<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>The coincidence of autism with epilepsy is 27% in those individuals with intellectual disability.<jats:sup>1<\/jats:sup> Individuals with loss\u2010of\u2010function mutations in <jats:italic><jats:styled-content style=\"fixed-case\">SHANK<\/jats:styled-content>3<\/jats:italic> have intellectual disability, autism, and variably, epilepsy.<jats:sup>2\u20105<\/jats:sup> The spectrum of seizure semiologies and electroencephalography (<jats:styled-content style=\"fixed-case\">EEG<\/jats:styled-content>) abnormalities has never been investigated in detail. With the recent report that <jats:italic><jats:styled-content style=\"fixed-case\">SHANK<\/jats:styled-content>3<\/jats:italic> mutations are present in approximately 2% of individuals with moderate to severe intellectual disabilities and 1% of individuals with autism, determining the spectrum of seizure semiologies and electrographic abnormalities will be critical for medical practitioners to appropriately counsel the families of patients with <jats:italic><jats:styled-content style=\"fixed-case\">SHANK<\/jats:styled-content>3<\/jats:italic> mutations.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>A retrospective chart review was performed of all individuals treated at the Blue Bird Circle Clinic for Child Neurology who have been identified as having either a chromosome 22q13 microdeletion encompassing <jats:italic><jats:styled-content style=\"fixed-case\">SHANK<\/jats:styled-content>3<\/jats:italic> or a loss\u2010of\u2010function mutation in <jats:italic><jats:styled-content style=\"fixed-case\">SHANK<\/jats:styled-content>3<\/jats:italic> identified through whole\u2010exome sequencing. For each subject, the presence or absence of seizures, seizure semiology, frequency, age of onset, and efficacy of therapy were determined. Electroencephalography studies were reviewed by a board certified neurophysiologist. Neuroimaging was reviewed by both a board certified pediatric neuroradiologist and child neurologist.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>There is a wide spectrum of seizure semiologies, frequencies, and severity in individuals with <jats:italic><jats:styled-content style=\"fixed-case\">SHANK<\/jats:styled-content>3<\/jats:italic> mutations. There are no specific EEG abnormalities found in our cohort, and <jats:styled-content style=\"fixed-case\">EEG<\/jats:styled-content> abnormalities were present in individuals diagnosed with epilepsy and those without history of a clinical seizure.<\/jats:p><\/jats:sec><jats:sec><jats:title>Significance<\/jats:title><jats:p>All individuals with a mutation in <jats:italic><jats:styled-content style=\"fixed-case\">SHANK<\/jats:styled-content>3<\/jats:italic> should be evaluated for epilepsy due to the high prevalence of seizures in this population. The most common semiology is atypical absence seizure, which can be challenging to identify due to comorbid intellectual disability in individuals with <jats:italic><jats:styled-content style=\"fixed-case\">SHANK<\/jats:styled-content>3<\/jats:italic> mutations; however, no consistent seizure semiology, neuroimaging findings, or EEG findings were present in the majority of individuals with <jats:italic><jats:styled-content style=\"fixed-case\">SHANK<\/jats:styled-content>3<\/jats:italic> mutations.<\/jats:p><\/jats:sec>","DOI":"10.1111\/epi.13506","type":"journal-article","created":{"date-parts":[[2016,8,24]],"date-time":"2016-08-24T11:32:44Z","timestamp":1472038364000},"page":"1651-1659","source":"Crossref","is-referenced-by-count":75,"title":["The spectrum of epilepsy and electroencephalographic abnormalities due to <i><scp>SHANK<\/scp>3<\/i> loss\u2010of\u2010function mutations"],"prefix":"10.1111","volume":"57","author":[{"suffix":"Jr.","given":"J. Lloyd","family":"Holder","sequence":"first","affiliation":[{"name":"Baylor College of Medicine and Texas Children's Hospital Houston Texas U.S.A."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael M.","family":"Quach","sequence":"additional","affiliation":[{"name":"Baylor College of Medicine and Texas Children's Hospital Houston Texas U.S.A."}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2016,8,24]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e3182a9f482"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-014-1423-7"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1186\/2040-2392-4-18"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33253"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.30155"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1186\/2040-2392-4-17"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1471-4159.2004.02910.x"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.2215-12.2012"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.celrep.2015.04.064"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature09965"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13229-015-0020-5"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.3017-13.2013"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddr212"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1086\/321293"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.02.001"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.seizure.2014.06.008"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.eplepsyres.2013.01.009"},{"key":"e_1_2_9_19_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature12618"},{"key":"e_1_2_9_20_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.aaf2669"},{"key":"e_1_2_9_21_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2952"},{"key":"e_1_2_9_22_1","doi-asserted-by":"publisher","DOI":"10.1002\/1096-8628(20010615)101:2<91::AID-AJMG1340>3.0.CO;2-C"},{"key":"e_1_2_9_23_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.40.8.575"},{"key":"e_1_2_9_24_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.40.9.690"},{"key":"e_1_2_9_25_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.114.2.451"},{"key":"e_1_2_9_26_1","doi-asserted-by":"publisher","DOI":"10.1097\/00019605-200504000-00001"},{"key":"e_1_2_9_27_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30780"},{"key":"e_1_2_9_28_1","doi-asserted-by":"crossref","first-page":"14","DOI":"10.1159\/000339119","article-title":"Neuropsychopathology in 7 patients with the 22q13 deletion syndrome: presence of bipolar disorder and progressive loss of skills","volume":"3","author":"Denayer A","year":"2012","journal-title":"Mol Syndromol"},{"key":"e_1_2_9_29_1","first-page":"464","article-title":"Clinical, cytogenetic, and molecular characterization of seven patients with deletions of chromosome 22q13.3","volume":"54","author":"Nesslinger NJ","year":"1994","journal-title":"Am J Hum Genet"}],"container-title":["Epilepsia"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fepi.13506","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fepi.13506","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/epi.13506","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,24]],"date-time":"2023-09-24T12:37:31Z","timestamp":1695559051000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/epi.13506"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,8,24]]},"references-count":28,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2016,10]]}},"alternative-id":["10.1111\/epi.13506"],"URL":"https:\/\/doi.org\/10.1111\/epi.13506","archive":["Portico"],"relation":{},"ISSN":["0013-9580","1528-1167"],"issn-type":[{"value":"0013-9580","type":"print"},{"value":"1528-1167","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016,8,24]]}}}