Role of SOX2 mutations in human hippocampal malformations and epilepsy

Sanjay M Sisodiya, Nicola K Ragge, Gianpiero L Cavalleri, Ann Hever, Birgit Lorenz, Adele Schneider, Kathleen A Williamson, John M Stevens, Samantha L Free, Pamela J Thompson, Veronica van Heyningen, David R Fitzpatrick

Research output: Contribution to journalArticlepeer-review


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.
Original languageEnglish
Pages (from-to)534-42
Number of pages9
Issue number3
Publication statusPublished - Mar 2006


  • Adolescent
  • Animals
  • Child
  • Epilepsy
  • Epilepsy, Temporal Lobe
  • Eye Abnormalities
  • Eye Proteins
  • Female
  • Functional Laterality
  • Gene Expression
  • Genetic Variation
  • HMGB Proteins
  • Haplotypes
  • Hippocampus
  • Homeodomain Proteins
  • Humans
  • Immunohistochemistry
  • Magnetic Resonance Imaging
  • Male
  • Mice
  • Mutation
  • Paired Box Transcription Factors
  • Phenotype
  • Repressor Proteins
  • SOXB1 Transcription Factors
  • Sclerosis
  • Seizures, Febrile
  • Temporal Lobe
  • Transcription Factors


Dive into the research topics of 'Role of SOX2 mutations in human hippocampal malformations and epilepsy'. Together they form a unique fingerprint.

Cite this