Giving Compass' Take:

• In this story from Seattle Children's, author Lyra Fontaine discusses how one kid's brain surgery allowed researchers to better understand intractable epilepsy and the HCN1 gene.

• Doctors were able to preserve and transport Tyler's brain tissue to the lab thanks to philanthropic funding. How important is it that funding for research be available on hand, in the event that an opportunity like this arises?

• To learn about research advancements made in Parkinson's Disease, click here.

At 5 months old, Tyler Cassinelli, now 3, was battling both liver cancer and intractable epilepsy. When he was at Seattle Children’s preparing to undergo cancer treatment, Tyler had a seizure that stopped his breathing.

Genetic testing revealed that Tyler had a mutation of the HCN1 gene. Children with this rare abnormality are at risk for traumatic epilepsies, said Dr. Nino Ramirez, director of the Center for Integrative Brain Research.

In addition to the mutation, Tyler had a brain malformation called focal cortical dysplasia, a common cause of intractable epilepsy. Testing showed Tyler’s seizures were coming from an area on the left side of his brain. Brain surgery to address the problematic lesion could help, and what’s more, his brain could also enable researchers to unlock some of the mysteries of the genetic mutation.

In February, [Dr. Jason] Hauptman performed a temporal lobectomy on Tyler. He surgically removed the part of Tyler’s brain that was one source of his seizures. Hauptman said it was clear that the brain tissue he removed was abnormal. It was firmer with abnormal folds on the surface, indicating the area may have developed differently.

The same day of Tyler’s surgery, philanthropic funding allowed a team of researchers to transport his donated brain tissue to the laboratory for immediate testing. Being able to examine live brain tissue is critical when examining changes in its electrical and chemical activity, which can trigger seizures. Seattle Children’s developed a procedure that preserves the brain tissue for 24 hours using a specific solution, making it available and accessible to the nerve recordings.

Read the full article about the HCN1 gene by Lyra Fontaine at On the Pulse