Sisodiya, Sanjay M. and Ragge, Nicola K. and Cavalleri, Gianpiero L. and Hever, Ann and Lorenz, Birgit and Schneider, Adele and Williamson, Kathleen A. and Stevens, John M. and Free, Samantha L. and Thompson, Pamela J. and van Heyningen, Veronica and Fitzpatrick, David R. (2006) Role of SOX2 mutations in human hippocampal malformations and epilepsy. Epilepsia 47 (3), pp. 534-542.
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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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|Institutions:||Medicine > Lehrstuhl für Augenheilkunde|
|Subjects:||600 Technology > 610 Medical sciences Medicine|
|Refereed:||Yes, this version has been refereed|
|Created at the University of Regensburg:||Unknown|
|Deposited On:||30 Aug 2007|
|Last Modified:||13 Mar 2014 10:11|