基因产物：染色体结构维持蛋白1A。

蛋白功能：在调节姐妹染色单体聚合和分离、维持染色体结构，以及在调控基因转录和DNA修复中发挥重要作用[1]。

相关疾病：德朗热综合征（Cornelia de Lange syndrome，CdLS）（XLD）[2]；发育性癫痫性脑病85型伴或不伴中线脑缺陷（XLD）（多数癫痫发作具有丛集性特点，部分可表现为 婴儿癫痫伴游走性局灶性发作 ）[3-5]。

相关临床研究：PubMed数据库（PMID:  37107610 (Genes (Basel). 2023) ; PMID:  28166369 (Epilepsia. 2017) ）

用药提醒：主要根据不同的癫痫综合征选择用药，多数为抗癫痫发作药物难治性，有个例报道部分患者对添加生酮饮食有一定效果（也有效果不好的报道）[6-7]。


参考文献

1. Diverse developmental disorders from the one ring: distinct molecular pathways underlie the cohesinopathies. Front Genet. 2012 Sep 12:3:171.
2. Hypertrophic cardiomyopathy in a girl with Cornelia de Lange syndrome due to mutation in SMC1A. Am J Med Genet A. 2010 Aug;152A(8 :2127-9.
3. Novel SMC1A frameshift mutations in children with developmental delay and epilepsy. Eur J Med Genet. 2015 Oct;58(10):562-8.
4. De novo loss-of-function mutations in X-linked SMC1A cause severe ID and therapy-resistant epilepsy in females: expanding the phenotypic spectrum. Clin Genet. 2016 Nov;90(5):413-419.
5. Novel SMC1A variant and epilepsy of infancy with migrating focal seizures: Expansion of the phenotype. Epilepsia. 2017 Jul;58(7):1301-1302.
6. Phenotypic spectrum and long-term outcome of children with genetic early-infantile-onset developmental and epileptic encephalopathy. Epileptic Disord. 2022 Apr 1;24(2):343-352.
7. 叶园珍,段婧,胡湛棋,et al. SMC1A基因截短变异相关发育性癫痫性脑病85型患儿4例并文献复习[J].中华儿科杂志, 2022, 60(6):5.