Patient Driven: Neuroscientists Solve the Puzzle of the Gene-Protein Duo Behind SYNGAP1

Most infants fuss and cry when they get sick, but Landen showed little sign of pain. Instead, when illness struck, Landen simply slowed down a bit.

“By the time I connected the dots and realized he was sleeping 15 minutes longer,” his mother Lisa says, “he’d have bilateral ear infections.”

In addition to his insensitivity to discomfort, Landen gets seizures, has an autism diagnosis, and at 12 years old knows about 100 words.

When he was born in 2006, Landen’s disorder had no name — just a constellation of symptoms that Lisa and her husband managed the best they could. It took genome sequencing in 2015 to match his condition to a recently discovered syndrome. Because of a small mutation in a gene called SYNGAP1 — possibly a single additional letter in the DNA code — Landen’s brain can’t make enough of a protein that keeps neural wiring in check as we grow and promotes learning and memory in adults.

Read the rest of the article here: https://www.brainfacts.org/diseases-and-disorders/therapies/2019/patient-driven-neuroscientists-solve-the-puzzle-of-the-gene-protein-duo-behind-syngap1-061219