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Role of SOX2 mutations in human hippocampal malformations and epilepsy

DOI to cite this document:
10.5283/epub.1974
Sisodiya, Sanjay M. ; Ragge, Nicola K. ; Cavalleri, Gianpiero L. ; Hever, Ann ; Lorenz, Birgit ; Schneider, Adele ; Williamson, Kathleen A. ; Stevens, John M. ; Free, Samantha L. ; Thompson, Pamela J. ; van Heyningen, Veronica ; Fitzpatrick, David R.
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Date of publication of this fulltext: 05 Aug 2009 13:35


Abstract

PURPOSE: Seizures are noted in a significant proportion of cases of de novo, heterozygous, loss-of-function mutations in SOX2, ascertained because of severe bilateral eye malformations. We wished to determine the underlying cerebral phenotype in SOX2 mutation and to test the candidacy of SOX2 as a gene contributing to human epilepsies. METHODS: We examined high-resolution MRI scans in four ...

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