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Role of SOX2 mutations in human hippocampal malformations and epilepsy

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 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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Date of publication of this fulltext: 05 Aug 2009 13:35

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Other URL: http://dx.doi.org/10.1111/j.1528-1167.2006.00464.x


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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Item type:Article
Date:March 2006
Institutions:Medicine > Lehrstuhl für Augenheilkunde
Identification Number:
ValueType
10.1111/j.1528-1167.2006.00464.xDOI
16529618PubMed ID
Dewey Decimal Classification:600 Technology > 610 Medical sciences Medicine
Status:Published
Refereed:Yes, this version has been refereed
Created at the University of Regensburg:Unknown
Item ID:1974
Owner only: item control page

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