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 und Fitzpatrick, David R. (2006) Role of SOX2 mutations in human hippocampal malformations and epilepsy. Epilepsia 47 (3), S. 534-542.

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Andere URL zum Volltext: http://dx.doi.org/10.1111/j.1528-1167.2006.00464.x

Zusammenfassung

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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