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
- 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.
- Zhou, P., et al., Novel mutations and phenotypes of epilepsy-associated genes in epileptic encephalopathies.Genes Brain Behav, 2018. 17( 8 ): p. e12456.
- Trivisano, M., et al., CHD2 mutations are a rare cause of generalized epilepsy with myoclonic-atonic seizures.Epilepsy Behav, 2015. 51: p. 53-6.