{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,24]],"date-time":"2025-05-24T13:24:28Z","timestamp":1748093068993,"version":"3.40.5"},"reference-count":19,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2022,12,19]],"date-time":"2022-12-19T00:00:00Z","timestamp":1671408000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100000925","name":"National Health and Medical Research Council","doi-asserted-by":"publisher","award":["GNT1128933","GNT1161549"],"award-info":[{"award-number":["GNT1128933","GNT1161549"]}],"id":[{"id":"10.13039\/501100000925","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Epilepsia Open"],"published-print":{"date-parts":[[2023,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Pathogenic somatic <jats:italic>MTOR<\/jats:italic> variants in the cerebral cortex are a frequent cause of focal cortical dysplasia (FCD). We describe a child with drug and surgery\u2010resistant focal epilepsy due to FCD type II who developed progressive enlargement and T2 signal hyperintensity in the ipsilateral caudate and lentiform nuclei. Histopathology of caudate nucleus biopsies showed dysmorphic neurons, similar to those in resected cortex. Genetic analysis of frontal and temporal cortex and caudate nucleus identified a pathogenic somatic <jats:italic>MTOR<\/jats:italic> variant [NM_004958.4:c.4375G\u2009&gt;\u2009C (p.Ala1459Pro)] that was not present in blood\u2010derived gDNA. The mean variant allele frequency ranged from 0.4% to 3.2% in cerebral cortex and up to 5.4% in the caudate nucleus. The basal ganglia abnormalities suggest more widespread, potentially hemispheric dysplasia in this patient, consistent with the pathogenic variant occurring in early cerebral development. This finding provides a potential explanation for persistent seizures in some patients with seemingly complete resection of FCD or disconnection of a dysplastic hemisphere.<\/jats:p>","DOI":"10.1002\/epi4.12678","type":"journal-article","created":{"date-parts":[[2022,12,3]],"date-time":"2022-12-03T08:20:11Z","timestamp":1670055611000},"page":"205-210","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Basal ganglia dysplasia and <scp>mTORopathy<\/scp>: A potential cause of postoperative seizures in focal cortical dysplasia"],"prefix":"10.1002","volume":"8","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9108-0258","authenticated-orcid":false,"given":"Wei Shern","family":"Lee","sequence":"first","affiliation":[{"name":"Murdoch Children's Research Institute  Parkville Victoria Australia"},{"name":"Department of Paediatrics The University of Melbourne  Parkville Victoria Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9894-4610","authenticated-orcid":false,"given":"Emma","family":"Macdonald\u2010Laurs","sequence":"additional","affiliation":[{"name":"Department of Paediatrics The University of Melbourne  Parkville Victoria Australia"},{"name":"Department of Neurology The Royal Children's Hospital  Parkville Victoria Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sarah E M","family":"Stephenson","sequence":"additional","affiliation":[{"name":"Murdoch Children's Research Institute  Parkville Victoria Australia"},{"name":"Department of Paediatrics The University of Melbourne  Parkville Victoria Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Colleen","family":"D'Arcy","sequence":"additional","affiliation":[{"name":"Department of Anatomical Pathology The Royal Children's Hospital  Parkville Victoria Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Duncan","family":"MacGregor","sequence":"additional","affiliation":[{"name":"Department of Anatomical Pathology The Royal Children's Hospital  Parkville Victoria Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Richard J","family":"Leventer","sequence":"additional","affiliation":[{"name":"Murdoch Children's Research Institute  Parkville Victoria Australia"},{"name":"Department of Paediatrics The University of Melbourne  Parkville Victoria Australia"},{"name":"Department of Neurology The Royal Children's Hospital  Parkville Victoria Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wirginia","family":"Maixner","sequence":"additional","affiliation":[{"name":"Murdoch Children's Research Institute  Parkville Victoria Australia"},{"name":"Department of Paediatrics The University of Melbourne  Parkville Victoria Australia"},{"name":"Department of Neurosurgery The Royal Children's Hospital  Parkville Victoria Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6388-7444","authenticated-orcid":false,"given":"A Simon","family":"Harvey","sequence":"additional","affiliation":[{"name":"Murdoch Children's Research Institute  Parkville Victoria Australia"},{"name":"Department of Paediatrics The University of Melbourne  Parkville Victoria Australia"},{"name":"Department of Neurology The Royal Children's Hospital  Parkville Victoria Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2531-8413","authenticated-orcid":false,"given":"Paul J","family":"Lockhart","sequence":"additional","affiliation":[{"name":"Murdoch Children's Research Institute  Parkville Victoria Australia"},{"name":"Department of Paediatrics The University of Melbourne  Parkville Victoria Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2022,12,19]]},"reference":[{"key":"e_1_2_12_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00401-019-02061-5"},{"key":"e_1_2_12_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00401-019-02052-6"},{"key":"e_1_2_12_4_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1703784"},{"key":"e_1_2_12_5_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000010670"},{"key":"e_1_2_12_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/epi.17301"},{"key":"e_1_2_12_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.seizure.2010.02.003"},{"key":"e_1_2_12_8_1","doi-asserted-by":"publisher","DOI":"10.3171\/2012.6.PEDS11325"},{"key":"e_1_2_12_9_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awab479"},{"key":"e_1_2_12_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.24444"},{"key":"e_1_2_12_11_1","doi-asserted-by":"publisher","DOI":"10.1212\/NXG.0000000000000118"},{"key":"e_1_2_12_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajpath.2017.01.015"},{"key":"e_1_2_12_13_1","doi-asserted-by":"publisher","DOI":"10.1158\/2159-8290.CD-13-0929"},{"key":"e_1_2_12_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature25023"},{"key":"e_1_2_12_15_1","doi-asserted-by":"publisher","DOI":"10.1007\/978-1-4684-0150-9_15"},{"key":"e_1_2_12_16_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000011003"},{"key":"e_1_2_12_17_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1528-1167.2010.02633.x"},{"key":"e_1_2_12_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.eplepsyres.2021.106572"},{"key":"e_1_2_12_19_1","doi-asserted-by":"publisher","DOI":"10.1212\/NXG.0000000000000540"},{"key":"e_1_2_12_20_1","doi-asserted-by":"publisher","DOI":"10.1002\/acn3.51505"}],"container-title":["Epilepsia Open"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/epi4.12678","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/epi4.12678","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/epi4.12678","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,18]],"date-time":"2023-08-18T05:16:28Z","timestamp":1692335788000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/epi4.12678"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,12,19]]},"references-count":19,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2023,3]]}},"alternative-id":["10.1002\/epi4.12678"],"URL":"https:\/\/doi.org\/10.1002\/epi4.12678","archive":["Portico"],"relation":{},"ISSN":["2470-9239","2470-9239"],"issn-type":[{"type":"print","value":"2470-9239"},{"type":"electronic","value":"2470-9239"}],"subject":[],"published":{"date-parts":[[2022,12,19]]},"assertion":[{"value":"2022-08-25","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-12-01","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-12-19","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}