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- Title
Increased frequency of distinct TSC2 allelic variants in focal cortical dysplasias with balloon cells and mineralization.
- Authors
Schönberger, Anna; Niehusmann, Pitt; Urbach, Horst; Majores, Michael; Grote, Alexander; Holthausen, Hans; Blümcke, Ingmar; Deckert, Martina; Becker, Albert J.
- Abstract
Focal cortical dysplasias with balloon cells (FCDIIb) usually present with characteristic imaging and molecular features, that is, a transmantle sign on fluid-attenuated inversion recovery MRI and abundance of allelic variants of the tuberous sclerosis gene 1 ( TSC1). Recently, we observed several mineralized lesions ( n = 5) lacking this MRI pattern and which surprisingly turned out as FCDIIb upon neuropathological examination. These mineralized FCDIIb revealed an increased frequency of TSC2 allelic variants but not TSC1 (intron 31: 60% vs. 11% in controls; P = 0.0164, exon 41: 40% vs. 6.5% in controls; P = 0.0441). Mineralized FCDIIb have a favorable postsurgical outcome and need consideration in the presurgical differential diagnosis of calcified lesions associated with pharmacoresistant focal epilepsies.
- Subjects
DYSPLASIA; CELL transformation; GENE frequency; DIFFERENTIAL diagnosis; NEUROLOGICAL disorders; CLINICAL trials
- Publication
Neuropathology, 2009, Vol 29, Issue 5, p559
- ISSN
0919-6544
- Publication type
Article
- DOI
10.1111/j.1440-1789.2009.01018.x