{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,21]],"date-time":"2025-10-21T03:21:19Z","timestamp":1761016879965},"reference-count":26,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2011,2,22]],"date-time":"2011-02-22T00:00:00Z","timestamp":1298332800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2011,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Anecdotal cases of polymicrogyria (PMG; a malformation of cortical development consisting of an excessive number of small gyri with abnormal lamination) in patients with neurofibromatosis type 1 (NF1) have been described; however, the cases were unilateral and had negative <jats:italic>NF1<\/jats:italic> genetic testing. We describe an 11\u2010year\u2010old girl with NF1 manifesting as a complex epileptic syndrome, including partial seizures secondarily generalized and status epilepticus, who had in association, bilateral, asymmetrical (opercular and paracentral lobular) PMG. She had a 1\u2010bp deletion (c.1862delC) in exon 12b of the <jats:italic>NF1<\/jats:italic> gene. It is notable that, given the key role played by the <jats:italic>NF1<\/jats:italic> gene product, neurofibromin, in normal brain development, and the relatively high frequency of other brain findings in NF1, there are not more NF1 cases with brain malformations manifesting as PMG. \u00a9 2011 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.33318","type":"journal-article","created":{"date-parts":[[2011,2,23]],"date-time":"2011-02-23T17:36:43Z","timestamp":1298482603000},"page":"582-585","source":"Crossref","is-referenced-by-count":7,"title":["Bilateral (opercular and paracentral lobular) polymicrogyria and neurofibromatosis type 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