What is FRRS1L Gene Disorder?

FRRS1L gene is a protein coding gene contained in all cells of the brain. It helps build key components of the ampa receptor that get produced to sit outside the cell and send messages between cells. FRRS1L gene disorder results from a mutation and resulting loss of function of the FRRS1L gene. FRRS1L disorder causes the messages in the brain to not get through from one cell to another. These messages affect all areas of function and life for the child. The resulting disorder produces epilepsy, progressive dyskinesis (abnormal movements), developmental delay, diffuse hypotonia, cortical and cerebellar volume loss, and gradual loss of responsiveness to the environment. Current research shows children from birth to two years old having developmental delays, but still gaining abilities, and then at age two begin having seizures that cause regression, and quick loss of function and/or abilities.

To learn more details about the struggle of children with FRRS1L, please check out the FRRS1L Kids Stories.