Article
The ALOXE3 gene variants from patients with Dravet syndrome decrease gene expression and enzyme activity.
Brain research bulletin - 1 May 2021
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
Abstract excerpt
Aberrant expression or dysfunction of a number of genes in the brain contributes to epilepsy, a common neurological disorder characterized by recurrent seizures. Local overexpression of arachidonate lipoxygenase 3 (ALOXE3), a key enzyme for arachidonic acid (AA) metabolic pathway, alleviates seizure severities. However, the relationship between the ALOXE3 gene mutation and epilepsy has not been reported until...
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