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

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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 ...