PCDH19基因介绍

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PCDH19基因介绍 was created by 凤凰

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]。

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)。另有文献报道 左乙拉西坦 丙戊酸钠 托吡酯 司替戊醇 等药物对部分患者也有一定疗效,加奈索酮也有被发现对部分患者有效,需要更多的研究来进一步验证,多数患者进入青春期后癫痫发作本身也会有很大缓减[5-6]。


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.
  5. Cureus. 2022 Jul 22;14(7):e27154.
  6. 张君,杨志刚,刘淼,等.PCDH19基因变异相关癫痫家系的临床特点及遗传学分析[J].中华神经科杂志, 2024, 57(10):1120-1126.
26 May 2022 09:28 #1

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