HCN1基因介绍

  • 凤凰
  • 凤凰's Avatar Topic Author
  • Elite Member
  • Elite Member
  • Posts: 212

HCN1基因介绍 was created by 凤凰

基因产物:超极化激活环核苷酸门控阳离子通道1。

蛋白功能:超极化情况下打开的阳离子通道,参与心脏和神经元的固有起搏电流。

相关疾病:发育性癫痫性脑病24型(部分可表现为 Dravet 综合征 )(AD)[1,2]; 遗传性癫痫伴热性惊厥附加症 (AD)[3]。 


参考文献
  1. Nava, C., et al., De novo mutations in HCN1 cause early infantile epileptic encephalopathy.Nat Genet, 2014. 46(6): p. 640-5.
  2. Mei, D., et al., Dravet syndrome as part of the clinical and genetic spectrum of sodium channel epilepsies and encephalopathies. Epilepsia, 2019. 60 Suppl 3: p. S2-S7.
  3. Marini, C., et al., HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond.Brain, 2018. 141(11): p. 3160-3178.
25 May 2022 18:18 #1

Please Log in or Create an account to join the conversation.

Time to create page: 0.440 seconds