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Brain Advance Access originally published online on March 13, 2008
Brain 2008 131(4):900-901; doi:10.1093/brain/awn056
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© The Author (2008). Published by Oxford University Press on behalf of the Guarantors of Brain. All rights reserved. For Permissions, please email: journals.permissions@oxfordjournals.org

Scientific Commentary

Somatic mosaicism as a basic epileptogenic mechanism?

Dick Lindhout

Epilepsy Institute of the Netherlands SEIN &
Department of Medical Genetics, KC 04.084.2
Division of Biomedical Genetics
University Medical Center Utrecht
PO Box 85090
NL-3508 AB Utrecht
The Netherlands

E-mail: d.lindhout@umcutrecht.nl

The first 10% of the full text of this article appears below.

In this issue of Brain, Professor Ingrid Scheffer and colleagues describe four unrelated families with epilepsy in females, in which the disease is transmitted through virtually unaffected obligate carrier males. Based on this segregation pattern and the clinical phenotype, they made the diagnosis of epilepsy and mental retardation limited to females (EFMR), and linkage analysis confirmed a locus on Xq22. The value of this study is the further phenotypic delineation of EFMR and the confirmation of the existence of this peculiar inverse pattern of X-linked inheritance—heterozygous females affected, hemizygous males virtually unaffected. The study . . . [Full Text of this Article]


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