Cognitive functioning in humans with mutations of the PAX6 gene.

Thompson, P J; Mitchell, T N; Free, S L; Williamson, K A; Hanson, I M; van Heyningen, V; Moore, A T; Sisodiya, S M · Neurology · 2004

case_series · Level IV

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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.

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