携带PAX6基因突变的人类的认知功能。
Cognitive functioning in humans with mutations of the PAX6 gene.
作者信息
Thompson P J, Mitchell T N, Free S L, Williamson K A, Hanson I M, van Heyningen V, Moore A T, Sisodiya S M
机构信息
Department of Clinical and Experimental Epilepsy, Institute of Neurology, University College London, UK.
出版信息
Neurology. 2004 Apr 13;62(7):1216-8. doi: 10.1212/01.wnl.0000118298.81140.62.
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.
对14名携带PAX6基因突变且先前已确定存在MRI异常的患者进行了认知功能测试。未发现缺陷。前连合发育不全的亚组在工作记忆测试中的表现明显比没有这种异常的亚组差，这表明前连合除了在早期确定的感觉发育和处理中发挥作用外，可能还在认知加工中发挥作用。
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