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 March 26, 2015 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 March 26, 2015).

Share This


More From ScienceDaily



More Health & Medicine News

Thursday, March 26, 2015

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

House Ready to Pass Medicare Doc Bill

House Ready to Pass Medicare Doc Bill

AP (Mar. 26, 2015) In rare bipartisan harmony, congressional leaders pushed a $214 billion bill permanently blocking physician Medicare cuts toward House passage Thursday, moving lawmakers closer to resolving a problem that has plagued them for years. (March 26) Video provided by AP
Powered by NewsLook.com
HIV Outbreak Prompts Public Health Emergency In Indiana

HIV Outbreak Prompts Public Health Emergency In Indiana

Newsy (Mar. 26, 2015) Indiana Gov. Mike Pence says he will bring additional state resources to help stop the epidemic. Video provided by Newsy
Powered by NewsLook.com
Indiana Permits Needle Exchange as HIV Cases Skyrocket

Indiana Permits Needle Exchange as HIV Cases Skyrocket

Reuters - US Online Video (Mar. 26, 2015) Governor Mike Pence declares the recent HIV outbreak in rural Indiana a "public health emergency" and authorizes a short-term needle-exchange program. Rough Cut (no reporter narration) Video provided by Reuters
Powered by NewsLook.com
AAA: Distracted Driving a Serious Teen Problem

AAA: Distracted Driving a Serious Teen Problem

AP (Mar. 25, 2015) While distracted driving is not a new problem for teens, new research from the AAA Foundation for Traffic Safety says it&apos;s much more serious than previously thought. (March 25) 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