{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,26]],"date-time":"2026-09-26T08:24:34Z","timestamp":1790411074774,"version":"4.1.0"},"reference-count":23,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2020,10,8]],"date-time":"2020-10-08T00:00:00Z","timestamp":1602115200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100006108","name":"National Center for Advancing Translational Sciences","doi-asserted-by":"publisher","award":["Developmental Synaptopathies Consortium \/ U54NS092"],"award-info":[{"award-number":["Developmental Synaptopathies Consortium \/ U54NS092"]}],"id":[{"id":"10.13039\/100006108","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000065","name":"National Institute of Neurological Disorders and Stroke","doi-asserted-by":"publisher","award":["K23 NS107646\u201002"],"award-info":[{"award-number":["K23 NS107646\u201002"]}],"id":[{"id":"10.13039\/100000065","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000065","name":"National Institute of Neurological Disorders and Stroke","doi-asserted-by":"publisher","award":["R25 NS070682"],"award-info":[{"award-number":["R25 NS070682"]}],"id":[{"id":"10.13039\/100000065","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000065","name":"National Institute of Neurological Disorders and Stroke","doi-asserted-by":"publisher","award":["RO1 35129"],"award-info":[{"award-number":["RO1 35129"]}],"id":[{"id":"10.13039\/100000065","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Annals of Neurology"],"published-print":{"date-parts":[[2020,12]]},"abstract":"<jats:sec><jats:title>Objective<\/jats:title><jats:p>Congenital structural brain malformations have been described in patients with pathogenic phosphatase and tensin homologue (<jats:italic>PTEN<\/jats:italic>) variants, but the frequency of cortical malformations in patients with <jats:italic>PTEN<\/jats:italic> variants and their impact on clinical phenotype are not well understood. Our goal was to systematically characterize brain malformations in patients with <jats:italic>PTEN<\/jats:italic> variants and assess the relevance of their brain malformations to clinical presentation.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We systematically searched a local radiology database for patients with <jats:italic>PTEN<\/jats:italic> variants who had available brain magnetic resonance imaging (MRI). The MRI scans were reviewed systematically for cortical abnormalities. We reviewed electroencephalogram (EEG) data and evaluated the electronic medical record for evidence of epilepsy and developmental delay.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>In total, we identified 22 patients with <jats:italic>PTEN<\/jats:italic> pathogenic variants for which brain MRIs were available (age range 0.4\u201317\u2009years). Twelve among these 22 patients (54%) had polymicrogyria (PMG). Variants associated with PMG or atypical gyration encoded regions of the phosphatase or C2 domains of PTEN. Interestingly, epilepsy was present in only 2 of the 12 patients with PMG. We found a trend toward higher rates of global developmental delay (GDD), intellectual disability (ID), and motor delay in individuals with cortical abnormalities, although cohort size limited statistical significance.<\/jats:p><\/jats:sec><jats:sec><jats:title>Interpretation<\/jats:title><jats:p>Malformations of cortical development, PMG in particular, represent an under\u2010recognized phenotype associated with <jats:italic>PTEN<\/jats:italic> pathogenic variants and may have an association with cognitive and motor delays. Epilepsy was infrequent compared to the previously reported high risk of epilepsy in patients with PMG. ANN NEUROL 2020;88:1153\u20131164<\/jats:p><\/jats:sec>","DOI":"10.1002\/ana.25904","type":"journal-article","created":{"date-parts":[[2020,9,22]],"date-time":"2020-09-22T09:31:11Z","timestamp":1600767071000},"page":"1153-1164","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":24,"title":["Polymicrogyria is Associated With Pathogenic Variants in <scp><i>PTEN<\/i><\/scp>"],"prefix":"10.1002","volume":"88","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2087-4082","authenticated-orcid":false,"given":"Diane D.","family":"Shao","sequence":"first","affiliation":[{"name":"Department of Neurology Boston Children's Hospital  Boston MA USA"},{"name":"Division of Genetics and Genomics, Manton Center for Orphan Disease Research, Department of Pediatrics Boston Children's Hospital  Boston MA USA"},{"name":"Departments of Neurology and Pediatrics Harvard Medical School  Boston MA 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