Featured Research

from universities, journals, and other organizations

First Gene Discovered For Most Common Form Of Epilepsy

Date:
January 29, 2009
Source:
Columbia University Medical Center
Summary:
Researchers have 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.

The researchers searched the entire genome of 38 families and found a single region on chromosome 11 that was linked to the EEG pattern seen in Rolandic epilepsy. Then by comparing markers in 68 patients and 187 controls across all the genes in this region, they narrowed down the association to markers within the ELP4 gene, shown as the largest red triangular block above.
Credit: Image courtesy of Columbia University Medical Center

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.

Related Articles


The finding is the first step in unlocking the causes of common childhood epilepsies and developing more effective treatments. Children with Rolandic and other types of epilepsies are usually treated with drugs that prevent seizures by suppressing electrical activity in the entire brain.

"Epilepsy medications are effective for many children but there is concern that some of the cognitive and behavioral problems that children with epilepsy often suffer might be attributable in part to these drugs," says 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.

The finding was replicated in a completely different set of patients and controls collected by the team's Canadian members, with the same result. Though Dr. Pal says an outside group still needs to replicate the findings, the two independent experiments provide strong evidence that ELP4 is truly linked to Rolandic epilepsy.

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."

The findings also offer possible insights into the causes of attention deficit hyperactivity disorder (ADHD), speech dyspraxia (a speech disorder in which a person has a delay in speech development due to motor coordination difficulties), and developmental coordination disorder (DCD). Children with these developmental disorders often have the same spiky brainwave pattern that is present in children with Rolandic epilepsy. Understanding how the ELP4 gene is related to the brainwave pattern may help researchers uncover the causes of these disorders.

Rolandic epilepsy, named for the region of the brain affected by the seizures, begins almost exclusively in children between the ages of 3 and 12. Seizures typically start in the morning just after the child wakes up and cause a loss of muscle tone in the face and a loss of speech. Seizures stop on their own after several minutes. Most children grow out of the disorder by adolescence.

Additional authors of this study include Lisa Strug, Ph.D., formerly an assistant professor with Columbia University Mailman School of Public Health’s Department of Biostatistics, Division of Statistical Genetics.

Results of the study were published in an advance online issue of the European Journal of Human Genetics on January 28, 2009.

The study was supported by members of the Partnership for Pediatric Epilepsy Research (American Epilepsy Society, Epilepsy Foundation, Anna and Jim Fantaci, Fight Against Childhood Epilepsy and Seizures, Neurotherapy Ventures Charitable Research Fund, Parents Against Childhood Epilepsy); Epilepsy Foundation, through the generous support of the Charles L. Shor Foundation for Epilepsy Research, Inc.; and the NIH.


Story Source:

The above story is based on materials provided by Columbia University Medical Center. Note: Materials may be edited for content and length.


Cite This Page:

Columbia University Medical Center. "First Gene Discovered For Most Common Form Of Epilepsy." ScienceDaily. ScienceDaily, 29 January 2009. <www.sciencedaily.com/releases/2009/01/090128122809.htm>.
Columbia University Medical Center. (2009, January 29). First Gene Discovered For Most Common Form Of Epilepsy. ScienceDaily. Retrieved December 22, 2014 from www.sciencedaily.com/releases/2009/01/090128122809.htm
Columbia University Medical Center. "First Gene Discovered For Most Common Form Of Epilepsy." ScienceDaily. www.sciencedaily.com/releases/2009/01/090128122809.htm (accessed December 22, 2014).

Share This


More From ScienceDaily



More Health & Medicine News

Monday, December 22, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

Christmas Kissing Good for Health

Christmas Kissing Good for Health

Reuters - Innovations Video Online (Dec. 22, 2014) Scientists in Amsterdam say couples transfer tens of millions of microbes when they kiss, encouraging healthy exposure to bacteria. Suzannah Butcher reports. Video provided by Reuters
Powered by NewsLook.com
Brain-Dwelling Tapeworm Reveals Genetic Secrets

Brain-Dwelling Tapeworm Reveals Genetic Secrets

Reuters - Innovations Video Online (Dec. 22, 2014) Cambridge scientists have unravelled the genetic code of a rare tapeworm that lived inside a patient's brain for at least four year. Researchers hope it will present new opportunities to diagnose and treat this invasive parasite. Matthew Stock reports. Video provided by Reuters
Powered by NewsLook.com
Touch-Free Smart Phone Empowers Mobility-Impaired

Touch-Free Smart Phone Empowers Mobility-Impaired

Reuters - Innovations Video Online (Dec. 21, 2014) A touch-free phone developed in Israel enables the mobility-impaired to operate smart phones with just a movement of the head. Suzannah Butcher reports. Video provided by Reuters
Powered by NewsLook.com
Earthworms Provide Cancer-Fighting Bacteria

Earthworms Provide Cancer-Fighting Bacteria

Reuters - Innovations Video Online (Dec. 21, 2014) Polish scientists isolate bacteria from earthworm intestines which they say may be used in antibiotics and cancer treatments. Suzannah Butcher reports. Video provided by Reuters
Powered by NewsLook.com

Search ScienceDaily

Number of stories in archives: 140,361

Find with keyword(s):
Enter a keyword or phrase to search ScienceDaily for related topics and research stories.

Save/Print:
Share:

Breaking News:

Strange & Offbeat Stories


Health & Medicine

Mind & Brain

Living & Well

In Other News

... from NewsDaily.com

Science News

Health News

Environment News

Technology News



Save/Print:
Share:

Free Subscriptions


Get the latest science news with ScienceDaily's free email newsletters, updated daily and weekly. Or view hourly updated newsfeeds in your RSS reader:

Get Social & Mobile


Keep up to date with the latest news from ScienceDaily via social networks and mobile apps:

Have Feedback?


Tell us what you think of ScienceDaily -- we welcome both positive and negative comments. Have any problems using the site? Questions?
Mobile: iPhone Android Web
Follow: Facebook Twitter Google+
Subscribe: RSS Feeds Email Newsletters
Latest Headlines Health & Medicine Mind & Brain Space & Time Matter & Energy Computers & Math Plants & Animals Earth & Climate Fossils & Ruins