Featured Research

from universities, journals, and other organizations

Disease gene discovered for frequent epilepsy in childhood

Date:
August 12, 2013
Source:
Medical University of Vienna
Summary:
More than 50 million people worldwide have epilepsy, with a third of these being children. The most common forms of epilepsy in children occur without any apparent trigger and only affect certain regions of the brain. This condition is known as idiopathic focal epilepsy (IFE). Researchers have successfully identified the first disease gene for IFE.

Disease gene discovered for frequent epilepsy in childhood.
Credit: Image courtesy of Medical University of Vienna

More than 50 million people worldwide have epilepsy, with a third of these being children. The most common forms of epilepsy in children occur without any apparent trigger and only affect certain regions of the brain. This condition is known as idiopathic focal epilepsy (IFE). The hallmark of IFE is the origin of the fit being in what is termed the rolandic region of the brain. Now, thanks to the considerable input of MedUni Vienna researchers, two pan-European research networks have successfully identified the first disease gene for IFE.

Related Articles


The gene concerned is known as GRIN2A. Changes to this gene cause one of the key ion channels in the brain to malfunction, affecting the electrical excitation of nerve cells. This explains the increased number of electrical discharges in the brain and therefore the manifestation of epileptic fits. The results of the study, which were obtained through the two research networks EuroEPINOMICS and IonNeurOnet, have now been published in the journal Nature Genetics.

The research project came into being from collaboration between numerous groups of researchers in Europe who shared a common goal: to understand the genetic causes of this type of childhood epilepsy. "What was crucial for our breakthrough was the close cooperation of doctors carrying out clinical research with theoretical researchers," explains Fritz Zimprich from the University Department of Neurology at the MedUni Vienna, who coordinated the researchers involved in the project from Vienna, Graz and Innsbruck. "A third of the patients investigated with state-of-the-art genetic methods come from Austria.

All in all, genetic material from 400 patients with IFE was analysed. In 7.5 per cent of sufferers, the scientists found changes in the GRIN2A gene. In "rolandic epilepsy," which accounts for 15 per cent of cases of childhood epilepsy and therefore makes it the most common form of the condition, these mutations disrupt the function of the NMDA receptor, one of the brain's key ion channels. The flow of ions in this type of channel influences and determines the nerve cells' electrical excitation.

It is however still not yet fully understood how the mutation in the gene on the NMDA receptor leads to epilepsy. Says Zimprich: "We only see the condition as a result of the mutations; we haven't yet fully discovered the mechanisms behind it." The next target is to understand these mechanisms. This is also an essential step in the development of more effective and more tolerable anticonvulsant medications.


Story Source:

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


Journal Reference:

  1. Johannes R Lemke et al. Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes. Nature Genetics, 2013; DOI: 10.1038/ng.2728

Cite This Page:

Medical University of Vienna. "Disease gene discovered for frequent epilepsy in childhood." ScienceDaily. ScienceDaily, 12 August 2013. <www.sciencedaily.com/releases/2013/08/130812102607.htm>.
Medical University of Vienna. (2013, August 12). Disease gene discovered for frequent epilepsy in childhood. ScienceDaily. Retrieved March 5, 2015 from www.sciencedaily.com/releases/2013/08/130812102607.htm
Medical University of Vienna. "Disease gene discovered for frequent epilepsy in childhood." ScienceDaily. www.sciencedaily.com/releases/2013/08/130812102607.htm (accessed March 5, 2015).

Share This


More From ScienceDaily



More Health & Medicine News

Thursday, March 5, 2015

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

Bupa Eyes India Healthcare Opportunities

Bupa Eyes India Healthcare Opportunities

Reuters - Business Video Online (Mar. 5, 2015) Bupa is hoping to expand in India&apos;s fast-growing health insurance market, once a rule change on foreign investment is implemented. The British private healthcare group&apos;s CEO tells Grace Pascoe why it&apos;s so keen on the new opportunity. Video provided by Reuters
Powered by NewsLook.com
Doctor in Your Pocket Is Getting Smarter

Doctor in Your Pocket Is Getting Smarter

Reuters - Business Video Online (Mar. 5, 2015) Mobile apps are turning smartphones into a personal doctors, with users able to measure heart rate, blood pressure and even blood sugar. But will it change our behaviour? Ivor Bennett reports from the Mobile World Congress in Barcelona. Video provided by Reuters
Powered by NewsLook.com
AbbVie Inks $21B Deal To Buy Cancer Drugmaker Pharmacyclics

AbbVie Inks $21B Deal To Buy Cancer Drugmaker Pharmacyclics

Newsy (Mar. 5, 2015) AbbVie announced Wednesday it will buy cancer drugmaker Pharmacyclics in a $21 billion deal. Video provided by Newsy
Powered by NewsLook.com
Toddlers Drinking Coffee? Why You Shouldn't Share Your Joe

Toddlers Drinking Coffee? Why You Shouldn't Share Your Joe

Newsy (Mar. 5, 2015) A survey of Boston mothers and toddlers found that 15 percent of two-year-olds drink coffee and 2.5 percent of 1-year-olds. Video provided by Newsy
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