U research helps find treatment for seizures

By By Deborah Rafferty

By Deborah Rafferty

At only 2-and-a-half weeks old, Kris Hansen’s daughter had her first seizure.

By the time she was 5 years old, she had experienced her first six-hour seizure. On a daily basis, she will have about 150 seizures. Hansen considers it a miracle that now, at age 11, her daughter can even write her name because the frequency of the seizures impairs her ability to learn.

Several weeks ago, Hansen, president of the Epilepsy Association of Utah, was asked to tell her daughter’s story to U researchers who have been searching for genetic clues as to what causes febrile seizures. A study published online Wednesday detailed the researcher’s findings of a mutated gene that causes seizures and contributes to Dravet Syndrome, a type of epilepsy that begins with fever-induced seizures. The researchers’ discovery could lead to better treatment.

“I just cried when they sent me the press release because it gave me more hope than I’ve had in a long time,” Hansen said. “Because we’re such a small group, not a lot of researchers want to take on the task. It gives us hope that someone knows we’re out there.”

The gene controls sodium channels in neurons to help them communicate. When neurons fire signals, at the beginning, sodium channels open up, acting as conduits to let sodium into the cell and conduct electricity for neuron communication. However, when the gene mutates, the sodium channel’s functions are altered and are prevented from working properly, which results in a seizure, said Nanda Singh, a researcher and first author in the U’s Eccles Institute of Human Genetics.

Dravet Syndrome affects infants under the age of 6 months and lasts into their adult life. This type of epilepsy causes distress for doctors and family members because it is difficult to find an approved medication for such small children, Hansen said.

U scientists’ research could provide genetic testing to see whether Hansen’s daughter has the mutated gene that causes the seizures, Singh said. Now that the scientists have identified the gene, they can better target the specific gene to develop better drugs for patients.

“Some epilepsy patients don’t respond to drugs because we don’t know what protein to target,” Singh said. Their discovery could provide excellent targets to fine-tune new drugs.
The gene also controls pain, so many people with the disorder have a high pain tolerance. Hansen said once, before her daughter had one of her seizures, she pulled out four of her teeth without feeling a thing. Another time, her daughter broke her arm and only started to complain five hours later, when doctors said a normal child would have made a fuss instantly.

Febrile seizures affect about one in 20 infants, and even fewer are affected by Dravet Syndrome. Because of the frequency of the seizures, patients with Dravet Syndrome often have developmental and social problems. Developmentally, they are only about half their age and many will not survive into their 20s and 30s. Almost no one with the disorder will live beyond the age of 40, Hansen said.

Because her daughter has Dravet Syndrome, Hansen said she has practically lived in the hospital and recently moved into a house just half a mile away from one. She doesn’t know how long treatments will work for her daughter, but it’s working now, so she said she’ll take it.

“It’s a neat thing to see her come so far,” Hansen said. “Whether it affects our kids or not, it will affect someone. They will not have to go through what we did.”
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