期刊
TRENDS IN MOLECULAR MEDICINE
卷 18, 期 3, 页码 156-163出版社
ELSEVIER SCI LTD
DOI: 10.1016/j.molmed.2012.01.003
关键词
-
资金
- National Institutes of Health/National Institute of Mental Health [R01 MH081754-02R]
- National Institutes of Health ACE Center [1P50-HD055784-01]
- ACE Network [5R01-MH081754-04]
Autism spectrum disorder (ASD) is a phenotypically and genetically heterogeneous condition characterized by the presence of repetitive/restrictive behaviors and variable deficits in language and social behavior. Many genes predisposing an individual to ASD have been identified, and understanding the causal disease mechanism(s) is critical to be able to develop treatments. Neurobiological, genetic, and imaging data provide strong evidence for the CNTNAP2 gene as a risk factor for ASD and related neurodevelopmental disorders. This review discusses the clinical genetics and current understanding of the biology of CNTNAP2 as related to ASD and illustrates how the integration of multiple research approaches, from human studies to animal models, converge to inform functional biology focused on novel treatment development.
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据