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:6/26/2016)... ... 2016 , ... Pixel Film Studios Released ProSlice Levels, a Media Slicing Effect ... videos a whole new perspective by using the title layers in ProSlice Levels ... , ProSlice Levels contains over 30 Different presets to choose from. FCPX ...
(Date:6/25/2016)... ... June 25, 2016 , ... Austin residents seeking Mohs surgery services, can ... Surgery and to Dr. Russell Peckham for medical and surgical dermatology. , Dr. Dorsey ... cancer. The selective fellowship in Mohs Micrographic Surgery completed by Dr. Dorsey was under ...
(Date:6/25/2016)... ... June 25, 2016 , ... Dr. Calvin Johnson has dedicated ... has implemented orthobiologic procedures as a method for treating his patients. The procedure ... doctors to perform the treatment. Orthobiologics are substances that orthopaedic surgeons use to ...
(Date:6/24/2016)... Michigan (PRWEB) , ... June 24, 2016 , ... June ... about the dangers associated with chronic pain and the benefits of holistic treatments, ... individuals who are suffering with Sickle Cell Disease. , Sickle Cell Disease (SCD) is ...
(Date:6/24/2016)... ... 2016 , ... Comfort Keepers® of San Diego, CA is excited to announce ... program to drive cancer patients to and from their cancer treatments. Comfort Keepers ... of life and ongoing independence. Getting to and from medical treatments is one ...
Breaking Medicine News(10 mins):
(Date:6/23/2016)... -- Any dentist who has made an implant supported denture ... of them do not even offer this as a viable ... costs involved. And those who ARE able to offer that ... cost that the majority of today,s patients would not be ... , founder of Dental Evolutions Inc. and inventor of Implanova ...
(Date:6/23/2016)... 2016 Capricor Therapeutics, Inc. ... biotechnology company focused on the discovery, development and ... enrollment in its ongoing randomized HOPE-Duchenne clinical trial ... of its 24-patient target. Capricor expects the trial ... of 2016, and to report top line data ...
(Date:6/23/2016)...  Astellas today announced the establishment of Astellas Farma Colombia (AFC), a new affiliate with operations headquartered in ... . ... ... ... Astellas ...
Breaking Medicine Technology: