Navigation Links
Gene Discovered for Most Common Form of Epilepsy
Date:1/28/2009

The hope is the finding could lead to new treatments for the neurological disorder

WEDNESDAY, Jan. 28 (HealthDay News) -- Researchers have linked a genetic variation to a common form of epilepsy in children, potentially paving the way toward greater insight into the disorder.

"It's the first step toward developing a diagnostic test, which can help provide a more precise diagnosis and information about which particular drug or treatment may be effective," said study senior author Dr. Deb Pal, a pediatric neurologist and research scientist at Columbia University.

Epilepsy affects an estimated 60 million people worldwide, about 1 percent of the entire population, Pal said. In the United States, an estimated three million people have the disorder.

The condition causes seizures when electrical signals in the brain are disrupted. In the worst cases, the seizures rob people of consciousness and control over their bodies.

In some cases, the cause of epilepsy is obvious, Pal said. It may develop after a head injury or brain tumor, for instance.

But the cause is unclear about two-thirds of the time, he said. However, "in the last 15 years, there's been a concerted effort to try to get to the bottom of the majority of these."

Genetics appear to play a role. "We know that in twins, if one twin has it, there's a higher chance the other twin will have it," Pal said. Also, researchers have discovered that families prone to unusual types of epilepsy share unusual genes, another indication of a genetic link, he said.

In the new study, researchers decided to look at the most common type of epilepsy in children, known as Rolandic epilepsy.

According to the Epilepsy Foundation, Rolandic epilepsy affects 16 percent of children who develop epilepsy before age 15. Patients typically have seizures during sleep, and the condition disappears in 95 percent of those affected by the time they turn 14.

The study authors examined the genomes of 38 families with members who had the condition. They found a gene variation -- in a gene called ELP4 -- that appeared to be linked to Rolandic epilepsy.

The findings were published online Jan. 28 in the European Journal of Human Genetics.

The full meaning of the research remains to be determined, Pal said. "In the future, it could be used as part of a test to predict those who are at risk and those who are not at risk" for developing the condition, he said.

The finding also might provide insights into conditions such as ADHD and speech dyspraxia, a disorder in which a person has delayed speech development because of motor coordination difficulties, according to background information with the study.

For the moment, there's not much doctors could do if they knew a child was at risk of epilepsy, but that could change, Pal said.

Dr. Orrin Devinsky, professor of neurology, neurosurgery and psychiatry at New York University School of Medicine, said the next challenge is to figure out how the genetic variation affects the makeup of the brain.

"More information is great, but we need to convert basic science data into improved clinical care, a big challenge," said Devinsky, who's familiar with the findings of the new study.

More information

Learn more about epilepsy from the Epilepsy Foundation.



SOURCES: Deb Pal, M.D., Ph.D., research scientist, Columbia University, New York City; Orrin Devinsky, M.D., professor of neurology, neurosurgery and psychiatry, New York University School of Medicine, New York City; Jan. 28, 2009, European Journal of Human Genetics, online


'/>"/>
Copyright©2009 ScoutNews,LLC.
All rights reserved

Related medicine news :

1. First biomarker discovered that predicts prostate cancer outcome
2. New prion protein discovered by Canadian scientists may offer insight into mad cow disease
3. Ear infection superbug discovered to be resistant to all pediatric antibiotics
4. New peritoneal dialysis diagnostic discovered
5. New peptide communication factor enabling bacteria to talk to each other discovered
6. New genetic lineage of Ebola virus discovered in great apes
7. Key to MRSA Virulence in Community Discovered
8. Recently discovered virus associated with pediatric respiratory tract infection in Germany
9. Seven New Cholesterol Genes Discovered
10. Gene That Creates Cerebral Cortex Discovered
11. Newly discovered virus linked to deadly skin cancer
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:5/27/2016)... ... 27, 2016 , ... An educational campaign aimed at everyone ... courtesy of awareness-driven celebrities and thought leaders. It also provides insight to the ... leaders such as Bioness. , As patients feel increasingly concerned about the ...
(Date:5/27/2016)... Killeen, Texas (PRWEB) , ... May 27, 2016 , ... ... with satisfying Army body fat composition regulations. This is the first time that ... are normally screened at least every six months to ensure they meet the prescribed ...
(Date:5/27/2016)... ... May 27, 2016 , ... Aimed at nurses and employees in the health ... of leaders in the nursing and health care industry. It also provides insight to ... Christian University. , As the nursing industry is coming out of one of ...
(Date:5/27/2016)... ... 27, 2016 , ... With a team of certified experts, ... Aside from its GMP accreditation, Validation Center is also a registered authority of ... and staff. , Validation Center is ISO17025 accredited and only offers its clients ...
(Date:5/26/2016)... ... 26, 2016 , ... There are many ways to cook a hot dog, ... that Americans prefer their dogs straight off the grill. Of the 90 percent of ... way to cook a hot dog, far outpacing other cooking methods such as steaming ...
Breaking Medicine News(10 mins):
(Date:5/25/2016)... Germany and GERMANTOWN, Maryland ... (NASDAQ: QGEN ; Frankfurt Prime Standard: QIA) today ... co-development agreement with Therawis Diagnostics GmbH to develop and commercialize ... develop and market PITX2 as a marker to predict effectiveness ... cancer patients. "We are pleased to partner with ...
(Date:5/25/2016)... , May 25, 2016 ... & Expo earlier this month, the numbers and momentum ... continue to climb into the billions, more research and ... released 4th Edition State of Legal Marijuana Markets Report ... cannabis-focused data-analysis firm, much of the increase in sector ...
(Date:5/25/2016)... , May 25, 2016 ... employing the precision of circulating tumour DNA (ctDNA) ... announces the appointment of Professor Clive Morris ... medical leadership across the clinical development programme, scientific ... products help deliver significant improvements in clinical outcomes ...
Breaking Medicine Technology: