Go to content
UR Home

Role of SOX2 mutations in human hippocampal malformations and epilepsy

DOI to cite this document:
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.
(402kB) - Repository staff only
Date of publication of this fulltext: 05 Aug 2009 13:35


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 ...


Owner only: item control page
  1. Homepage UR

University Library

Publication Server


Publishing: oa@ur.de
0941 943 -4239 or -69394

Dissertations: dissertationen@ur.de
0941 943 -3904

Research data: datahub@ur.de
0941 943 -5707

Contact persons