{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T03:22:09Z","timestamp":1787023329508,"version":"build-2736575974"},"reference-count":11,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2021,6,15]],"date-time":"2021-06-15T00:00:00Z","timestamp":1623715200000},"content-version":"vor","delay-in-days":75,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100000065","name":"National Institute of Neurological Disorders and Stroke","doi-asserted-by":"publisher","award":["R01NS115929"],"award-info":[{"award-number":["R01NS115929"]}],"id":[{"id":"10.13039\/100000065","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100010327","name":"Cincinnati Children\u2019s Research Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100010327","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Epileptic Disorders"],"published-print":{"date-parts":[[2021,4]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Recently, studies on whole\u2010exome sequencing (WES) of large cohorts of people with periventricular heterotopia (PVH) have reported an association with loss\u2010of\u2010function variants in the\n                    <jats:italic>MAP1B<\/jats:italic>\n                    gene. However, neurological phenotypes of these patients remain poorly characterized. Four family members with seizures beginning in early childhood were evaluated. Integrated genomic analysis with WES and microarray was performed. Affected family members had various combinations of: febrile, fever\u2010triggered and afebrile seizures; photo\u2010sensitivity; comorbid mild developmental delays; obsessive\u2010compulsive behaviors; and poor attention span. Neuroimaging showed PVH, corpus callosum abnormalities, and perisylvian polymicrogyria. A novel heterozygous frameshift variant in\n                    <jats:italic>MAP1B<\/jats:italic>\n                    was found in all affected family members. This report extends the clinical and neuroimaging phenotypes associated with\n                    <jats:italic>MAP1B<\/jats:italic>\n                    pathogenic variants.\n                    <jats:italic>MAP1B<\/jats:italic>\n                    variants may be considered in patients with febrile and afebrile seizures if characteristic neuroimaging, particularly PVH, is observed.\n                  <\/jats:p>","DOI":"10.1684\/epd.2021.1258","type":"journal-article","created":{"date-parts":[[2021,5,13]],"date-time":"2021-05-13T09:30:49Z","timestamp":1620898249000},"page":"392-396","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["Epilepsy phenotypes associated with\n                    <i>MAP1B<\/i>\n                    \u2010related brain malformations"],"prefix":"10.1002","volume":"23","author":[{"given":"Ravindra","family":"Arya","sequence":"first","affiliation":[{"name":"Comprehensive Epilepsy Center, Division of Neurology Cincinnati Children's Hospital Medical Center Cincinnati Ohio USA"},{"name":"Department of Pediatrics University of Cincinnati College of Medicine Cincinnati Ohio USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christine","family":"Spaeth","sequence":"additional","affiliation":[{"name":"Division of Human Genetics Cincinnati Children's Hospital Medical Center Cincinnati Ohio USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wenying","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of Cincinnati College of Medicine Cincinnati Ohio USA"},{"name":"Division of Human Genetics Cincinnati Children's Hospital Medical Center Cincinnati Ohio USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2021,6,15]]},"reference":[{"key":"e_1_2_5_2_1","first-page":"532","article-title":"Epileptogenic brain malformations: clinical presentation, malformative patterns and indications for genetic testing","volume":"11","author":"Guerrini R.","year":"2002","journal-title":"Seizure"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0896-6273(00)80651-0"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awt249"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/epi.12658"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36742"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1007281"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41467-018-05595-6"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61280"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41431-019-0401-x"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1684\/epd.2015.0737"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.151.6.1169"}],"container-title":["Epileptic Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1684\/epd.2021.1258","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,3,18]],"date-time":"2024-03-18T12:07:46Z","timestamp":1710763666000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1684\/epd.2021.1258"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,4]]},"references-count":11,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2021,4]]}},"alternative-id":["10.1684\/epd.2021.1258"],"URL":"https:\/\/doi.org\/10.1684\/epd.2021.1258","archive":["Portico"],"relation":{},"ISSN":["1294-9361","1950-6945"],"issn-type":[{"value":"1294-9361","type":"print"},{"value":"1950-6945","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,4]]},"assertion":[{"value":"2020-04-27","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-10-24","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-06-15","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}