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Role of SOX2 mutations in human hippocampal malformations and epilepsy

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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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
Subjects:600 Technology > 610 Medical sciences Medicine
Status:Published
Refereed:Yes, this version has been refereed
Created at the University of Regensburg:Unknown
Owner: Ute Lange
Deposited On:30 Aug 2007
Last Modified:13 Mar 2014 10:11
Item ID:1974
Owner Only: item control page
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