Featured Research

from universities, journals, and other organizations

New gene discovery unlocks mystery of epilepsy in infants

Date:
January 19, 2012
Source:
University of Melbourne
Summary:
Researchers have come a step closer to unlocking a mystery that causes epileptic seizures in babies. Benign familial infantile epilepsy has been recognized for some time as infantile seizures, without fever, that run in families but the cause has so far eluded researchers. However, clinical researchers have now discovered a gene.

A team of Australian researchers has come a step closer to unlocking a mystery that causes epileptic seizures in babies.

Benign familial infantile epilepsy (BFIE) has been recognised for some time as infantile seizures, without fever, that run in families but the cause has so far eluded researchers. However clinical researchers at the University of Melbourne and Florey Neurosciences Institute and molecular geneticists at the University of South Australia have discovered a gene.

BFIE is a disorder that occurs in previously healthy infants who are developing normally. Seizures commence when a baby is about six months old and stop by the age of two years. BFIE is a rare form of epilepsy with the Australian researchers having studied about 40 families from around the world. Some of the children with this gene abnormality develop an unusual movement disorder later in childhood or adolescence called Paroxysmal Kinesigenic Choreoathetosis (PKC).

This movement disorder causes sudden, brief stiffening or twisting of their muscles as the person starts to move, for instance, people with this condition often have difficulty crossing the road when the traffic lights change to green. While this condition can be easily controlled by medication, it impacts on quality of life and may prevent people from participating in some activities.

Families with this condition have now been found to carry a variation in a gene called PRRT2, which may cause the protein the gene encodes to form incorrectly. The function of this gene is not yet known nor is it understood how the changes in this gene cause an infant to have seizures. This gene discovery provides valuable opportunities for learning more about brain function and what causes seizures.

Professor Ingrid Scheffer, Chair of Paediatric Neurology Research said the finding would help families understand why their baby has seizures and will provide reassurance that the baby will grow out of the seizures and not have long term problems. It will also help with early diagnosis and appropriate treatment of the movement disorder.


Story Source:

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


Cite This Page:

University of Melbourne. "New gene discovery unlocks mystery of epilepsy in infants." ScienceDaily. ScienceDaily, 19 January 2012. <www.sciencedaily.com/releases/2012/01/120117145459.htm>.
University of Melbourne. (2012, January 19). New gene discovery unlocks mystery of epilepsy in infants. ScienceDaily. Retrieved April 24, 2014 from www.sciencedaily.com/releases/2012/01/120117145459.htm
University of Melbourne. "New gene discovery unlocks mystery of epilepsy in infants." ScienceDaily. www.sciencedaily.com/releases/2012/01/120117145459.htm (accessed April 24, 2014).

Share This



More Health & Medicine News

Thursday, April 24, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

Big Pharma Braces for M&A Wave

Big Pharma Braces for M&A Wave

Reuters - Business Video Online (Apr. 22, 2014) Big pharma on the move as Novartis boss, Joe Jimenez, tells Reuters about plans to transform his company via an asset exchange with GSK, and Astra Zeneca shares surge on speculation that Pfizer is looking for a takeover. Joanna Partridge reports. Video provided by Reuters
Powered by NewsLook.com
Study Says Most Crime Not Linked To Mental Illness

Study Says Most Crime Not Linked To Mental Illness

Newsy (Apr. 22, 2014) A new study finds most crimes committed by people with mental illness are not caused by symptoms of their illness or disorder. Video provided by Newsy
Powered by NewsLook.com
Hagel Gets Preview of New High-Tech Projects

Hagel Gets Preview of New High-Tech Projects

AP (Apr. 22, 2014) Defense Secretary Chuck Hagel is given hands-on demonstrations Tuesday of some of the newest research from DARPA _ the military's Defense Advanced Research Projects Agency program. (April 22) Video provided by AP
Powered by NewsLook.com
How Smaller Plates And Cutlery Could Make You Feel Fuller

How Smaller Plates And Cutlery Could Make You Feel Fuller

Newsy (Apr. 22, 2014) NBC's "Today" conducted an experiment to see if changing the size of plates and utensils affects the amount individuals eat. 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:
from the past week

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