DCX

基因产物：双皮质素。

蛋白功能：大脑皮层发育过程中神经元离散和皮层分层的初始步骤所需的微管相关蛋白。

相关疾病：X连锁无脑回畸形（XL）[1]；X连锁皮层下带状灰质异位（XL）[2]；West 综合征[7]。

突变数据库：ClinVar数据库。

相关临床研究：PubMed数据库（PMID: 9618162 (Hum Mol Genet. 1998) [3]；PMID: 28413838 (Epilepsia Open. 2016) [4]）

相关动物研究：Dcx敲除大鼠（PMID: 25074818 (Ann Neurol. 2014) [5]），Dcx敲除小鼠（PMID: 28007902 (Hum Mol Genet. 2017) [6]）

讨论版块：点击进入DCX基因突变讨论版块。

参考文献

1. Chou, A., et al., Phenotypic and molecular characterization of a novel DCX deletion and a review of the literature.Clin Genet, 2009. 76(2): p. 214-8.
2. Matsumoto, N., et al., Mutation analysis of the DCX gene and genotype/phenotype correlation in subcortical band heterotopia.Eur J Hum Genet, 2001. 9(1): p. 5-12.
3. des Portes, V., et al., doublecortin is the major gene causing X-linked subcortical laminar heterotopia (SCLH). Hum Mol Genet, 1998. 7(7): p. 1063-70.
4. Kini, L.G., et al., Advanced structural multimodal imaging of a patient with subcortical band heterotopia. Epilepsia Open, 2016. 1(3-4): p. 152-155.
5. Petit, L.F., et al., Normotopic cortex is the major contributor to epilepsy in experimental double cortex. Ann Neurol, 2014. 76(3): p. 428-42.
6. Khalaf-Nazzal, R., et al., Early born neurons are abnormally positioned in the doublecortin knockout hippocampus. Hum Mol Genet, 2017. 26(1): p. 90-108.
7. Kato, M., A new paradigm for West syndrome based on molecular and cell biology. Epilepsy Res, 2006. 70 Suppl 1: p. S87-95.