Cognitive functioning in humans with mutations of the PAX6 gene

P J Thompson, T N Mitchell, S L Free, K A Williamson, I M Hanson, V van Heyningen, A T Moore, S M Sisodiya

Research output: Contribution to journalArticlepeer-review

Abstract / Description of output

Fourteen patients with PAX6 gene mutations and previously identified MRI abnormalities were administered tests of cognitive functioning. No deficits were found. A subgroup with agenesis of the anterior commissure performed significantly more poorly on measures of working memory than those without this abnormality, suggesting the anterior commissure may play a role in cognitive processing in addition to an earlier identified role in sensory development and processing.

Original languageEnglish
Pages (from-to)1216-8
Number of pages3
Issue number7
Publication statusPublished - 13 Apr 2004

Keywords / Materials (for Non-textual outputs)

  • Adolescent
  • Adult
  • Cognition/physiology
  • Cognition Disorders/complications
  • Corpus Callosum/pathology
  • Eye Proteins
  • Female
  • Homeodomain Proteins/genetics
  • Humans
  • Iris Diseases/complications
  • Magnetic Resonance Imaging
  • Male
  • Memory, Short-Term/physiology
  • Middle Aged
  • Mutation
  • Nervous System Malformations/complications
  • Neuropsychological Tests
  • PAX6 Transcription Factor
  • Paired Box Transcription Factors
  • Repressor Proteins


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