CHD2基因介绍

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CHD2基因介绍 was created by 凤凰

基因产物:染色质解旋酶DNA结合蛋白2。

蛋白功能:可特异的结合在一些靶基因的启动子上,影响染色质重塑,改变一些基因的表达。

相关疾病:发育性癫痫性脑病94型(部分可表现为 Dravet 综合征 (整体较典型的Dravet 综合症发病要晚)(AD)[1]; Lennox-Gastaut综合征 (AD)[2]; 癫痫伴肌阵挛失张力发作 (AD)[3])。 


参考文献
  1. Suls, A., et al., De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome.Am J Hum Genet, 2013. 93(5): p. 967-75.
  2. Zhou, P., et al., Novel mutations and phenotypes of epilepsy-associated genes in epileptic encephalopathies.Genes Brain Behav, 2018. 17( 8 ): p. e12456.
  3. Trivisano, M., et al., CHD2 mutations are a rare cause of generalized epilepsy with myoclonic-atonic seizures.Epilepsy Behav, 2015. 51: p. 53-6.
25 May 2022 15:17 #1

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