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.

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 July 31, 2014 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 July 31, 2014).

Share This




More Health & Medicine News

Thursday, July 31, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

Health Insurers' Profits Slide

Health Insurers' Profits Slide

Reuters - Business Video Online (July 30, 2014) — Obamacare-related costs were said to be behind the profit plunge at Wellpoint and Humana, but Wellpoint sees the new exchanges boosting its earnings for the full year. Fred Katayama reports. Video provided by Reuters
Powered by NewsLook.com
Concern Grows Over Worsening Ebola Crisis

Concern Grows Over Worsening Ebola Crisis

AFP (July 30, 2014) — Pan-African airline ASKY has suspended all flights to and from the capitals of Liberia and Sierra Leone amid the worsening Ebola health crisis, which has so far caused 672 deaths in Guinea, Liberia and Sierra Leone. Duration: 00:43 Video provided by AFP
Powered by NewsLook.com
At Least 20 Chikungunya Cases in New Jersey

At Least 20 Chikungunya Cases in New Jersey

AP (July 30, 2014) — At least 20 New Jersey residents have tested positive for chikungunya, a mosquito-borne virus that has spread through the Caribbean. (July 30) Video provided by AP
Powered by NewsLook.com
Xtreme Eating: Your Daily Caloric Intake All On One Plate

Xtreme Eating: Your Daily Caloric Intake All On One Plate

Newsy (July 30, 2014) — The Center for Science in the Public Interest released its 2014 list of single meals with whopping calorie counts. 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