First Gene Discovered For Most Common Form Of Epilepsy

ScienceDaily (Jan. 29, 2009) — An international team of researchers, led by investigators at Columbia University Medical Center, has uncovered the first gene linked to the most common type of epilepsy, called Rolandic epilepsy. One out of every five children with epilepsy is diagnosed with this form, which is associated with seizures starting in one part of the brain.
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Its significance is described by the study's senior author, pediatric neurologist Deb Pal, M.D., Ph.D., Columbia University research scientist in the Department of Psychiatry at the College of Physicians & Surgeons and at the Mailman School of Public Health and in the Division of Epidemiology at the New York State Psychiatric Institute.

"Most epilepsies have a genetic influence, much of which has yet to be discovered. If we knew the actual genetic causes, then we could try to stop or reverse the processes that lead to seizures and other neurological impairments. This finding will hopefully help lead us to the right intervention."

In the study, the researchers searched the entire genome of 38 families and found a region on chromosome 11 that was linked with Rolandic epilepsy. Then, by comparing this region in people with Rolandic epilepsy to unaffected controls (255 people in total), the researchers pinpointed the gene, called ELP4. ...

ELP4 has never before been linked to a human disease but is related to a group of genes (transcriptional regulators) that recently have been associated with other common forms of epilepsy. All these genes appear to influence the organization of brain circuits during development.

The discovery of genes like ELP4 are slowly altering the prevailing view of the cause of common epilepsies. Instead of stemming from changes in the brain's ion channels, as previously thought, the disorders likely stem from the way the brain's neurons connect to each other during development, researchers now believe.

With that perspective, it is not surprising that children with epilepsy often have other learning and behavior problems. "We shouldn't think of epilepsy as just about the seizures, but also about all the other brain impairments we see, like a delay in speaking, reading difficulties, and attention problems," Dr. Pal says. "Seizures are one, but not the only, consequence of these children's slightly altered brain development."

Since I just finished reading Sarah Vowell's history of the Puritans' beginnings in New England, The Wordy Shipmates, it struck me how fast/slow our country has evolved our tolerance for the unknown. The Puritans, like most people then and now, navigated a world available to our senses but judged it with criteria drawn from an extra sensory plain. For example, we explain a summer deluge as a "blessing" or a "curse" depending on if our plants needed water, the house washed away or our Fourth of July picnic was interrupted. Human brains are story making machines after all, so by applying our value judgments to an event outside of our control gives us the calming sense that we understand it.

Of course, we usually don't understand it or really even try that hard to understand. That requires an investment of time and study. Did you notice the detail required to give the pedigree of the study?

Pediatric neurologist Deb Pal, M.D., Ph.D., Columbia University research scientist in the Department of Psychiatry at the College of Physicians & Surgeons and at the Mailman School of Public Health and in the Division of Epidemiology at the New York State Psychiatric Institute.

This woman alone has at LEAST 22 years of education. She is part of a team who bring not only similar amounts of training but also can tap the intellectual resources and networks of the associated colleges, schools, institutes and universities.

All that intellectual rigor cranks out a report, which is dissected by peers to test the conclusions. The data is available for us to touch, see, examine and test. In this case, the data is that a gene may influence how our brain circuits get organized as we develop from childhood on. This one fact peels away a mysterious layer from why some kids don't learn real good or can't focus on ...hey look a bird!

I tend to get a bit ranty about how religion, superstition or generalization cuts the legs out from underneath from rigorously testing the physical world that we inhabit. A geneticist studying a snip of DNA generates information that tells us more about why a child with epilepsy may learn or behave differently than other children. Compare that with the explanations that more commonly fall from our lips:
"The parents are too ignorant/lazy/busy/self-absorbed"
"He's a little demon"
"The schools today..."

In essence we judge the kid to be a bad kid (or under the influence of someone rotten) without any expertise except our own life experience.

Face it. We're not going to go read the full paper (or go to med school) to really understand understand how this particular gene is intertwined with brain development which influences behavior. I'm not for sure.

But I can read the quick lay-friendly article and use it to guide my understanding and views. I can use this as the plot for the story that helps me understand this aspect of epilepsy. I have to acknowledge that I don't have the expertise to really understand this discovery and its implications. It is outside my own life experience. I have to acknowledge that my life experience isn't going to be sufficient to explain or solve the dilemma. That means less of the calm, self-confidence available if I were continue to solely rely on a value judgment about the child's antics.

Thanks to the ever popular Brother Mat for the linkie.