{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,17]],"date-time":"2026-09-17T19:22:31Z","timestamp":1789672951415,"version":"4.0.1"},"reference-count":33,"publisher":"Oxford University Press (OUP)","issue":"4","license":[{"start":{"date-parts":[[2023,8,11]],"date-time":"2023-08-11T00:00:00Z","timestamp":1691712000000},"content-version":"vor","delay-in-days":222,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100004359","name":"Swedish Research Council","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004359","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004348","name":"Stockholm County Council","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004348","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004047","name":"Karolinska Institutet","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004047","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Frimurarna Barnahuset Foundation"},{"DOI":"10.13039\/501100008594","name":"Linnea och Josef Carlsson Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100008594","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Kronprinsessan Lovisa Foundation"},{"name":"Margaretahemmet Foundation"},{"name":"Sallskapet Barnavard and Foundation Epilepsifonden"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2023,7,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Polymicrogyria is estimated to be one of the most common brain malformations, accounting for \u223c16% of malformations of cortical development. However, the prevalence and incidence of polymicrogyria is unknown. Our aim was to estimate the prevalence, incidence rate, neuroimaging diversity, aetiology, and clinical phenotype of polymicrogyria in a population-based paediatric cohort. We performed a systematic search of MRI scans at neuroradiology department databases in Stockholm using the keyword polymicrogyria. The study population included all children living in the Stockholm region born from January 2004 to June 2021 with polymicrogyria. Information on the number of children living in the region during 2004\u201321 was collected from records from Statistics Sweden, whereas the number of births for each year during the study period was collected from the Swedish Medical Birth Register. All MRI scans were re-evaluated, and malformations were classified by a senior paediatric neuroradiologist. The prevalence and yearly incidence were estimated. Clinical data were collected from medical records. A total of 109 patients with polymicrogyria were included in the study. The overall polymicrogyria prevalence in Stockholm was 2.3 per 10 000 children, and the overall estimated yearly incidence between 2004 and 2020 was 1.9 per 10 000 person-years. The most common polymicrogyria distribution was in the frontal lobe (71%), followed by the parietal lobe (37%). Polymicrogyria in the peri-sylvian region was observed in 53%. Genetic testing was performed in 90 patients revealing pathogenic variants in 32%. Additionally, 12% had variants of uncertain significance. Five patients had a confirmed congenital infection, and in six individuals, the cause of polymicrogyria was assumed to be vascular. Epilepsy was diagnosed in 54%. Seizure onset during the first year of life was observed in 44%. The most common seizure types were focal seizures with impaired awareness, followed by epileptic spasms. Thirty-three of 59 patients with epilepsy (56%) were treated with more than two anti-seizure medications, indicating that pharmacoresistant epilepsy is common in polymicrogyria patients. Neurodevelopmental symptoms were observed in 94% of the individuals. This is the first population-based study on polymicrogyria prevalence and incidence. Confirmed genetic aetiology was present in one-third of individuals with polymicrogyria. Epilepsy was common in this patient group, and the majority had pharmacoresistant epilepsy. These findings increase our knowledge about polymicrogyria and will help in counselling patients and their families.<\/jats:p>","DOI":"10.1093\/braincomms\/fcad213","type":"journal-article","created":{"date-parts":[[2023,8,11]],"date-time":"2023-08-11T08:59:38Z","timestamp":1691744378000},"source":"Crossref","is-referenced-by-count":17,"title":["Polymicrogyria: epidemiology, imaging, and clinical aspects in a population-based cohort"],"prefix":"10.1093","volume":"5","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3089-4706","authenticated-orcid":false,"given":"Sintia","family":"Kolbjer","sequence":"first","affiliation":[{"name":"Department of Molecular Medicine and Surgery, Karolinska Institutet , Stockholm 17177 , Sweden"},{"name":"Department of Paediatric Neurology, Astrid Lindgren Children\u2019s Hospital, Karolinska University Hospital , Stockholm 17176 , Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1038-6168","authenticated-orcid":false,"given":"Daniel A","family":"Mart\u00edn Mu\u00f1oz","sequence":"additional","affiliation":[{"name":"Department of Neuroradiology and Paediatric Radiology, Karolinska University Hospital , Stockholm 17176 , Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne K","family":"\u00d6rtqvist","sequence":"additional","affiliation":[{"name":"Clinical Epidemiology Division, Department of Medicine, Solna, Karolinska Institutet , Stockholm 17177 , Sweden"},{"name":"Department of Obstetrics and Gynaecology, Visby County Hospital , Visby 62155 , Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria","family":"Pettersson","sequence":"additional","affiliation":[{"name":"Department of Molecular Medicine and Surgery, Karolinska Institutet , Stockholm 17177 , Sweden"},{"name":"Department of Clinical Genetics, Karolinska University Hospital , Stockholm 17176 , Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Hammarsj\u00f6","sequence":"additional","affiliation":[{"name":"Department of Molecular Medicine and Surgery, Karolinska Institutet , Stockholm 17177 , Sweden"},{"name":"Department of Clinical Genetics, Karolinska University Hospital , Stockholm 17176 , Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Britt-Marie","family":"Anderlid","sequence":"additional","affiliation":[{"name":"Department of Molecular Medicine and Surgery, Karolinska Institutet , Stockholm 17177 , Sweden"},{"name":"Department of Clinical Genetics, Karolinska University Hospital , Stockholm 17176 , Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria","family":"Dahlin","sequence":"additional","affiliation":[{"name":"Department of Paediatric Neurology, Astrid Lindgren Children\u2019s Hospital, Karolinska University Hospital , Stockholm 17176 , Sweden"},{"name":"Department of Women\u2019s and Children\u2019s Health, Karolinska Institutet , Stockholm 17177 , Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2023,8,11]]},"reference":[{"issue":"4","key":"2023082216092798700_fcad213-B1","doi-asserted-by":"crossref","first-page":"715","DOI":"10.1212\/WNL.53.4.715","article-title":"Clinical and imaging features of cortical malformations in childhood","volume":"53","author":"Leventer","year":"1999","journal-title":"Neurology"},{"issue":"Pt 5","key":"2023082216092798700_fcad213-B2","doi-asserted-by":"crossref","first-page":"1415","DOI":"10.1093\/brain\/awq078","article-title":"Clinical and imaging heterogeneity of polymicrogyria: A study of 328 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