Updated 03/24/2009 01:12 PM
Researchers Find Gene Linked To Epilepsy
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Researchers at Columbia University Medical Center have uncovered a gene linked to one of the most common forms of epilepsy, which could lead to learning more about the cause of the disorder and other serious neurological conditions. NY1's Health and Fitness reporter Kafi Drexel filed the following report.
Charlotte Collins, 11, says her childhood was normal up until about three years ago. Back then, she started having seizures early each morning, like clockwork.
"Usually I wake up because your tongue is tingling and it's like, 'Oh boy, here we go,'" says Collins. "It's very scary, it's kind of hard to believe that it's not like a near-death situation."
Charlotte has Rolandic epilepsy, the most common form the disorder, which one out of five children with seizure disorders are diagnosed with. Most grow out of it by the end of adolescence.
At the time, the diagnosis came as a shock to her parents.
"I remember calling family members and my husband's family and asking if there is any history of this and there wasn't," says Amy Collins, Charlotte's mother.
For the first time, a team of researchers led by doctors at Columbia University Medical Center may have found a genetic answer to the source of epilepsy.
After searching through the entire genome structure of 38 different families, including the Collinses, the researchers discovered a gene, Elongator Protein Complex 4, or ELP4, that is linked to Rolandic epilepsy.
Researchers say the gene discovery may finally lead to figuring out the cause of Rolandic epilepsy, along with other forms.
"By finding out what this gene does in a specific kind of epilepsy, that will be helpful in trying to figure out different ways of curing it," says Dr. Carl Bazil, the director of the Columbia Comprehensive Epilepsy Center.
Study investigators say the research still has years to go, but the findings shed light on other conditions like attention deficit, speech and developmental coordination disorders. Children with those disorders create similar brain wave patterns to those with Rolandic epilepsy.
Charlotte Collins has had no seizures for nearly a year now. Doctors say this could be due to the fact that she's already growing out of her condition, or it is simply well-controlled by medication.
Either way, the fifth-grader has high hopes about what the gene discovery may lead to.
“If they could find a gene in babies, then they could cure them. That would be pretty good because it is really annoying,” says Charlotte Collins. “I just had my first sleepover I've had in three years on Saturday night.”
Such hope for future children with epilepsy helps Collins sleep soundly.
For more information about the gene study, visit www.columbiaepilepsy.org.