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.

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