PCDH19

基因产物：原钙粘蛋白19。

蛋白功能：主要在脑内表达，属于钙依赖性细胞粘附蛋白。

相关疾病：发育性癫痫性脑病9型（也有称做限于女性的癫痫和智力低下（epilepsy and mental retardation restricted to females，EFMR），注：只是多数仅累及女性，也有男性发病的报道（嵌合体发病），可表现为热性惊厥附加症，遗传性癫痫伴热性惊厥附加症；Dravet 综合征;  婴儿癫痫伴游走性局灶性发作）（XL）[1-4]。

突变数据库：ClinVar数据库。

相关临床研究：PubMed数据库（PMID: 32057594 (Pediatr Neurol. 2020); PMID: 30451291 (Epilepsia. 2018)）

用药提醒：PMID: 26820223（Seizure. 2016）曾对58名具有PCDH19基因突变的女性患者的抗癫痫药物有效性进行分析，认为最有效的药物为氯巴占（样本量尚小，仅供参考，且有些药物未包括）

讨论版块：点击进入PCDH19基因突变讨论版块。

参考文献

1. Depienne, C., et al., Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females.PLoS Genet, 2009. 5(2): p. e1000381.
2. Perez, D., D.T. Hsieh, and L. Rohena, Somatic Mosaicism of PCDH19 in a male with early infantile epileptic encephalopathy and review of the literature. Am J Med Genet A, 2017. 173(6): p. 1625-1630.
3. Liwen Wu., et al., Epilepsy of Infancy With Migrating Focal Seizures (EIMFS): Expansion of Clinical Phenotypic And Genotypic Spectra. Scientific Reports, 2021.12 (under review, for medical professional reference only).
4. Depienne, C., et al., Mutations and deletions in PCDH19 account for various familial or isolated epilepsies in females. Hum Mutat, 2011. 32(1): p. E1959-75.