title: Cognitive functioning in humans with mutations of the PAX6 gene.
abstract: 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.
authors.affiliation: Department of Clinical and Experimental Epilepsy, Institute of Neurology, University College London, UK. Pamt@epilepsynse.org.uk
authors.forename: P J
authors.initials: PJ
authors.lastname: Thompson
authors.forename: T N
authors.initials: TN
authors.lastname: Mitchell
authors.forename: S L
authors.initials: SL
authors.lastname: Free
authors.forename: K A
authors.initials: KA
authors.lastname: Williamson
authors.forename: I M
authors.initials: IM
authors.lastname: Hanson
authors.forename: V
authors.initials: V
authors.lastname: van Heyningen
authors.forename: A T
authors.initials: AT
authors.lastname: Moore
authors.forename: S M
authors.initials: SM
authors.lastname: Sisodiya
mesh_terms: D000293:Adolescent; D000328:Adult; D003071:Cognition / Q000502:physiology*; D003072:Cognition Disorders / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D003337:Corpus Callosum / Q000473:pathology / Q000503:physiopathology; D005136:Eye Proteins; D005260:Female; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D007499:Iris Diseases / Q000150:complications / Q000235:genetics; D008279:Magnetic Resonance Imaging; D008297:Male; D008570:Memory, Short-Term / Q000502:physiology; D008875:Middle Aged; D009154:Mutation; D009421:Nervous System Malformations / Q000150:complications / Q000235:genetics / Q000503:physiopathology; D009483:Neuropsychological Tests; D000071841:PAX6 Transcription Factor; D051761:Paired Box Transcription Factors; D012097:Repressor Proteins
chemical_list: D005136:Eye Proteins; D018398:Homeodomain Proteins; D000071841:PAX6 Transcription Factor; C000605730:PAX6 protein, human; D051761:Paired Box Transcription Factors; D012097:Repressor Proteins