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. 2014 Jan 14;2(2):176–185. doi: 10.1002/mgg3.60

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© 2014 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals, Inc.

This is an open access article under the terms of the Creative Commons Attribution License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.

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Single exon in-frame deletion within the FERM domain of CCM1. (A) Contrast-enhanced T1-weighted MR showing two left temporal cavernomas (white arrowheads) causing drug-resistant epilepsy in a 46-year-old female (upper left panel). Intraoperative view after resection of the two temporal cavernomas and their surrounding hemosiderin (upper right panel). Minimal skin incision (lower left panel). Cosmetic result after 1 week (lower right panel). (B) Pedigree of the proband's family. (C and D) Direct sequencing revealed the splice site mutation c.2025+1G>A within CCM1 likely resulting in skipping of exon 18. (E) A smaller transcript is visible in the proband. (F) Electropherogram showing the junction between exon 17 and exon 19 in the smaller transcript.