Journal article
Is focal cortical dysplasia sporadic? Family evidence for genetic susceptibility
RJ Leventer, FE Jansen, SA Mandelstam, A Ho, I Mohamed, HB Sarnat, M Kato, T Fukasawa, H Saitsu, N Matsumoto, M Itoh, RM Kalnins, CW Chow, AS Harvey, GD Jackson, PB Crino, SF Berkovic, IE Scheffer
Epilepsia | WILEY-BLACKWELL | Published : 2014
DOI: 10.1111/epi.12533
Abstract
Focal cortical dysplasia is a common cortical malformation and an important cause of epilepsy. There is evidence for shared molecular mechanisms underlying cortical dysplasia, ganglioglioma, hemimegalencephaly, and dysembryoplastic neuroepithelial tumor. However, there are no familial reports of typical cortical dysplasia or co-occurrence of cortical dysplasia and related lesions within the same pedigree. We report the clinical, imaging, and histologic features of six pedigrees with familial cortical dysplasia and related lesions. Twelve patients from six pedigrees were ascertained from pediatric and adult epilepsy centers, eleven of whom underwent epilepsy surgery. Pedigree data, clinical i..
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Funding Acknowledgements
We would like to thank the patients and their families for participating in this study, Jacinta McMahon for the preparation of pedigree data in Figure 1, and Kate Pope and Rosie Burgess for helping to obtain patient data and DNA samples. This work has been supported by the Victorian Government's Operational Infrastructure Support Program. Funding was provided by the National Health and Medical Research Council of Australia and the Murdoch Childrens Research Institute.