FAM177A1 Genetic Disorder Patient seizure

This is Cooper who has s a rare genetic neurodevelopmental syndrome with neurodegenerative features caused by a loss of function the FAM177A1 gene. Variants on the FAM177A1 gene result in intellectual disability, macrocephaly, unusual gate or walking pattern, global developmental delay, arthritis, macrocephaly, seizures, disruptive behaviors, and autism. You can hear his sister in the background who also has this syndrome. This video demonstrates one of the types of seizures Cooper has. He also has a Lennox-Gastaut Syndrome (LGS) diagnosis Oct 2021