Featured Research

from universities, journals, and other organizations

Finding a genetic cause for severe childhood epilepsies

Date:
May 28, 2013
Source:
University of Melbourne
Summary:
A large scientific study has discovered new genes causing severe seizure disorders that begin in babies and early childhood. The finding will lead to new tests to diagnose these conditions and promises to lead to improved outcomes.

A large scientific study has discovered new genes causing severe seizure disorders that begin in babies and early childhood. The finding will lead to new tests to diagnose these conditions and promises to lead to improved outcomes.

Related Articles


Epileptic encephalopathies are severe seizure disorders occurring in infants and children. The seizures are accompanied by slow development and intellectual problems.

Paediatric neurologist and researcher Professor Ingrid Scheffer from the University of Melbourne and the Florey Institute of Neuroscience and Mental Health, and the clinical leader of the study said "these children have devastating disorders. Finding the cause is the first step in developing targeted treatments."

"Overall, our findings have important implications for making a diagnosis in patients, optimizing therapy and genetic counseling for families," she said.

The study published in Nature Genetics today revealed two new genes associated with these severe epilepsies.

In the study, researchers analysed the genes of 500 children who have epileptic encephalopathies.

Using recent advances in genetic testing, next generation sequencing of a gene panel was performed. Researchers analysed 65 genes of which 19 had previously been associated with epileptic encephalopathies and 46 were hypothesized to potentially cause these devastating disorders.

Results revealed that mutations that cause epileptic encephalopathy were found in 52 out of the 500 patients (more than 10% of the study population).

Mutations were found in 15 of the 65 genes, including two new genes, CHD2 and SYNGAP1, which have not previously been found to cause epileptic encephalopathies.

"This is a very exciting breakthrough which could lead to dramatic benefits in the lives of the children who suffer this condition," Professor Scheffer said.

These genes will now become a diagnostic test for children with these severe epilepsies and enable genetic counseling in their families.

Collaborators on the study included geneticists from the University of Washington, US and paediatric neurologists from around Australia, New Zealand, Denmark and Israel. The study was funded by the National Health and Medical Research Council, Australia and the National Institutes of Health, US.


Story Source:

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


Journal Reference:

  1. Gemma L Carvill, Sinιad B Heavin, Simone C Yendle, Jacinta M McMahon, Brian J O'Roak, Joseph Cook, Adiba Khan, Michael O Dorschner, Molly Weaver, Sophie Calvert, Stephen Malone, Geoffrey Wallace, Thorsten Stanley, Ann M E Bye, Andrew Bleasel, Katherine B Howell, Sara Kivity, Mark T Mackay, Victoria Rodriguez-Casero, Richard Webster, Amos Korczyn, Zaid Afawi, Nathanel Zelnick, Tally Lerman-Sagie, Dorit Lev, Rikke S Mψller, Deepak Gill, Danielle M Andrade, Jeremy L Freeman, Lynette G Sadleir, Jay Shendure, Samuel F Berkovic, Ingrid E Scheffer, Heather C Mefford. Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1. Nature Genetics, 2013; DOI: 10.1038/ng.2646

Cite This Page:

University of Melbourne. "Finding a genetic cause for severe childhood epilepsies." ScienceDaily. ScienceDaily, 28 May 2013. <www.sciencedaily.com/releases/2013/05/130528100145.htm>.
University of Melbourne. (2013, May 28). Finding a genetic cause for severe childhood epilepsies. ScienceDaily. Retrieved March 6, 2015 from www.sciencedaily.com/releases/2013/05/130528100145.htm
University of Melbourne. "Finding a genetic cause for severe childhood epilepsies." ScienceDaily. www.sciencedaily.com/releases/2013/05/130528100145.htm (accessed March 6, 2015).

Share This


More From ScienceDaily



More Health & Medicine News

Friday, March 6, 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