Featured Research

from universities, journals, and other organizations

How Genetic Mutation Causes Epilepsy In Infants

Date:
October 8, 2007
Source:
Howard Florey Institute
Summary:
The mutation in a single gene can cause epilepsy in infants. Infants are more susceptible to seizures because their brains are developing at a rapid rate, making their brain cells 'excitable'. Their neurons are growing and making new connections with other nerve cells, which can disrupt normal brain activity and results in epilepsy. Infants have protective mechanisms in their brains to control this excitability, but now the Florey scientists have uncovered that a single gene mutation prevents a specific ion channel from functioning correctly, thus causing excitability which results in epilepsy.

New research from the Howard Florey Institute in Melbourne has shown why mutation in a single gene can cause epilepsy in infants.

Related Articles


Infants are more susceptible to seizures because their brains are developing at a rapid rate, making their brain cells 'excitable'. Their neurons are growing and making new connections with other nerve cells, which can disrupt normal brain activity and results in epilepsy.

Infants have protective mechanisms in their brains to control this excitability, but now the Florey scientists have uncovered that a single gene mutation prevents a specific ion channel from functioning correctly, thus causing excitability which results in epilepsy.

Dr Steven Petrou and his team knew the genetic mutation existed, but did not know its impact on brain function or that it may control excitability in infants' brains.

"This discovery is helping us to understand how and why this form of epilepsy, known as benign familial neonatal-infantile seizures, appears in these infants," Dr Petrou said.

"Interestingly, we also found that the ion channel which carries the mutation is itself naturally protective as it limits excitability in the infant brain by waiting to fully 'switch on' only in the adult brain.

"The mutation accelerates this normally delayed development change, leaving the susceptible infant brain with an overly excitable channel and epilepsy.

"If this switch to a more excitable state occurs too early during brain development, it is possible that epilepsy and other neurological disorders develop.

"This highlights the complexity of the human brain and how disorders can develop if one single mechanism goes awry," he said.

This research was recently published in Molecular and Cellular Neuroscience. According to Dr Petrou, potential new avenues of research may emerge from this study.

Epilepsy affects 3% of the Australian population and better treatments are urgently needed as many existing therapies have serious side-effects for patients. In 30% of cases, the current drug options available provide limited seizure relief.

There are more than 200 types of epilepsy, which can either be inherited or result from a range of causes including, head trauma, vascular disease or brain tumours.


Story Source:

The above story is based on materials provided by Howard Florey Institute. Note: Materials may be edited for content and length.


Cite This Page:

Howard Florey Institute. "How Genetic Mutation Causes Epilepsy In Infants." ScienceDaily. ScienceDaily, 8 October 2007. <www.sciencedaily.com/releases/2007/10/071003100557.htm>.
Howard Florey Institute. (2007, October 8). How Genetic Mutation Causes Epilepsy In Infants. ScienceDaily. Retrieved December 18, 2014 from www.sciencedaily.com/releases/2007/10/071003100557.htm
Howard Florey Institute. "How Genetic Mutation Causes Epilepsy In Infants." ScienceDaily. www.sciencedaily.com/releases/2007/10/071003100557.htm (accessed December 18, 2014).

Share This


More From ScienceDaily



More Health & Medicine News

Thursday, December 18, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

UN: Up to One Million Facing Hunger in Ebola-Hit Countries

UN: Up to One Million Facing Hunger in Ebola-Hit Countries

AFP (Dec. 17, 2014) Border closures, quarantines and crop losses in West African nations battling the Ebola virus could lead to as many as one million people going hungry, UN food agencies said on Wednesday. Duration: 00:52 Video provided by AFP
Powered by NewsLook.com
When You Lose Weight, This Is Where The Fat Goes

When You Lose Weight, This Is Where The Fat Goes

Newsy (Dec. 17, 2014) Can fat disappear into thin air? New research finds that during weight loss, over 80 percent of a person's fat molecules escape through the lungs. Video provided by Newsy
Powered by NewsLook.com
Why Your Boss Should Let You Sleep In

Why Your Boss Should Let You Sleep In

Newsy (Dec. 17, 2014) According to research out of the University of Pennsylvania, waking up for work is the biggest factor that causes Americans to lose sleep. Video provided by Newsy
Powered by NewsLook.com
Flu Outbreak Closing Schools in Ohio

Flu Outbreak Closing Schools in Ohio

AP (Dec. 17, 2014) A wave of flu illnesses has forced some Ohio schools to shut down over the past week. State officials confirmed one pediatric flu-related death, a 15-year-old girl in southern Ohio. (Dec. 17) Video provided by AP
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