Article
Role of SOX2 mutations in human hippocampal malformations and epilepsy.
Epilepsia - 1 Mar 2006
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
Abstract excerpt
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...
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