The ALOXE3 gene variants from patients with Dravet syndrome decrease gene expression and enzyme activity

•A total of 5 variants identified in the ALOXE3 gene from DS patients.•The c.-50C > G variant decreases gene expression by preventing the TFII-I’s binding.•The p.I647 V mutation decreases the activity of ALOXE3 protein. Aberrant expression or dysfunction of a number of genes in the brain contribu...

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Veröffentlicht in:	Brain research bulletin 2021-05, Vol.170, p.81-89
Hauptverfasser:	Gao, Mei-Mei, Huang, Hao-Ying, Chen, Si-Yu, Tang, Hui-Ling, He, Na, Feng, Wen-Cai, Lu, Ping, Hu, Fei, Yan, Hua-Juan, Long, Yue-Sheng
Format:	Artikel
Sprache:	eng
Schlagworte:	Alleles ALOXE3 Arachidonic acid Brain - metabolism Dravet syndrome Epilepsies, Myoclonic - genetics Epilepsies, Myoclonic - metabolism Genetic screening HEK293 Cells Humans Lipoxygenase - genetics Lipoxygenase - metabolism Mutation Phenotype Promoter Regions, Genetic
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