CNKSR2

基因产物：RAS激酶抑制因子连接增强蛋白2。

蛋白功能：参与RAS信号通路调控，此外可作为支架蛋白和接头蛋白参与神经元突触后致密区的组成部分[1]。

相关疾病：X连锁智力障碍综合征，Houge型（XL）[2]；癫痫性脑病伴慢波睡眠期持续棘慢波（XL）[3-4]。

突变数据库：ClinVar数据库。

相关临床研究：PubMed数据库（PMID: 22511892 (Mol Syndromol. 2012)；PMID: 25223753 (Ann Neurol. 2014)；PMID: 25754917(Am J Med Genet A. 2015)；PMID: 28098945 (Epilepsia. 2017) ；PMID: 32197126 (Clin Neurophysiol. 2020)）

讨论版块：点击进入CNKSR2基因突变讨论版块。

参考文献

1. Vaags, A.K., et al., Absent CNKSR2 causes seizures and intellectual, attention, and language deficits. Ann Neurol, 2014. 76(5): p. 758-64.
2. Houge, G., I.H. Rasmussen, and R. Hovland, Loss-of-Function CNKSR2 Mutation Is a Likely Cause of Non-Syndromic X-Linked Intellectual Disability. Mol Syndromol, 2012. 2(2): p. 60-63.
3.  Damiano, J.A., et al., Frequency of CNKSR2 mutation in the X-linked epilepsy-aphasia spectrum. Epilepsia, 2017. 58(3): p. e40-e43.
4. Bonardi, C.M., et al., Expanding the clinical and EEG spectrum of CNKSR2-related encephalopathy with status epilepticus during slow sleep (ESES). Clin Neurophysiol, 2020. 131(5): p. 1030-1039.