Investigation of FRMPD4 variants associated with X-linked epilepsy

FRMPD4 is expressed throughout the lifespan, including the fetal, juvenile, and adult stages. In humans, FRMPD4 is highly expressed in the brain [1]. FRMPD4 knockout in mice results in deficits in hippocampus-dependent spatial learning and memory, indicating that FRMPD4 is essential for the normal development of the central nervous system. However, little is known regarding the association between FRMPD4 and epilepsy.

Source: Seizure: European Journal of Epilepsy - June 10, 2023 Category: Neurology Authors: Ren-Ke Li, Huan Li, Mao-Qiang Tian, Yun Li, Sheng Luo, Xiao- Yu Liang, Wen-Hui Liu, Bin-Mei Li, Xiao-Qi Shi, Juan Li, Bin Li, Xiao-Mei Shu, China Epilepsy Gene 1.0 Project Source Type: research