SCN8A-related epilepsy is caused by a small change in a single gene. It causes severe seizures that usually don’t respond to medicines, along with autism and serious learning and memory problems. There is no treatment for the root cause. To study it, this team grows tiny models of human brain tissue, called “brain organoids,” from patients’ own cells. They recently found that in the memory area, the gene change makes certain brain cells grow into the wrong type. These misdirected cells can no longer support other cells the memory area needs. With this grant, the team will test whether restoring their correct identity brings those supporting cells back.
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