Navigation Links
European epilepsy consortium identifies new gene for severe childhood epilepsy
Date:1/22/2014

r novel genes for seizure disorders.

As part of these ongoing research activities, the DNA of Dravet patients without SCN1A mutations was analyzed by trio exome sequencing, which searches across the active parts of the genome for de novo mutations that have arisen in these patients (de novo mutations are DNA copying errors that occur in the parents' gametes or in the fertilized egg or embryo, resulting in the afflicted family member being the first person in their family to have this genetic condition). In a group of 9 such patients, this analysis of their DNA (and the DNA of their parents) resulted in the identification of 2 patients with de novo mutations in CHD2, which stands for chromodomain helicase DNA binding protein 2. A third patient with a CHD2 mutation was subsequently identified as well.

To confirm that mutations in CHD2 cause the epilepsy observed in these patients, the same gene was then functionally analyzed in the tiny larvae of zebrafish, which have emerged in the last decade as a powerful animal model for the study of epilepsy. In the case of CHD2, scientists collaborating with the EuroEPINOMICS RES consortium used antisense technology to rapidly generate zebrafish larvae with a partial loss of function of this gene, and were then able to detect epileptic seizures in these animals using electrographic analysis (this method is very similar to electroencephalography, or EEG, which is used to analyze seizures in humans).

The genetic analysis was led by Peter De Jonghe, head of the Neurogenetics Group of the VIB Department of Molecular Genetics at the University of Antwerp (Antwerp, Belgium) and the epilepsy genetics group in Kiel, headed by Ingo Helbig (Dept. of Neuropediatrics, University of Kiel, Germany). Peter De Jonghe: "This research reinforces our belief that trio sequencing enables us to unravel the genetic background of syndromes which occur spontaneously. Previously, investigations into the genetic causes of syndr
'/>"/>

Contact: Kris Van der Beken
kris.vanderbeken@vib.be
32-473-7834
VIB (the Flanders Institute for Biotechnology)
Source:Eurekalert

Page: 1 2 3 4

Related biology news :

1. Alnylam and UMass Medical School announce Tuschl I patent upheld in European opposition proceedings
2. An invasive Asian fly is taking over European fruit
3. Building the European Unions Natura 2000 -- the largest ever network of protected areas
4. European grasslands challenge rainforests as the most species-rich spaces on Earth
5. European mountain plant population shows delayed response to climate change
6. European Society of Human Reproduction and Embryology 28th Annual Meeting -- Istanbul
7. Citizen science helps unlock European genetic heritage
8. PETA files complaint with European ombudsman over animal testing for REACH
9. First Indian-European research networking projects in the social sciences launched
10. Ukraine to Introduce European Standard of Biometric ID
11. BiOptix to highlight new 404pi instrument at European symposia
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:4/27/2015)... April 27, 2015  For more than four decades, ... has been the premier worldwide event for the unmanned ... a must-attend event for any local, national, or trade ... emerging commercial markets and current applications of unmanned technologies. ... this projected $48 billion industry, and how it will ...
(Date:4/27/2015)... -- NXT-ID, Inc. (NASDAQ: NXTD ) ("NXT-ID" or ... growing mobile commerce market, announces that its Wocket® Smart ... week of May, 2015 and will be fulfilling all ... Gino Pereira , Chief Executive Officer said, ... Wocket® enters the consumer market. We would like to ...
(Date:4/27/2015)... , Apr. 27, 2015 Profile Solutions, Inc. ... and security systems is pleased to announce that Dr ... a consultant and member of its scientific advisory board. ... known as a thought leader in technology-enhanced learning models. ... Group, and has published studies and books focused on ...
Breaking Biology News(10 mins):UNMANNED SYSTEMS 2015: Largest International Conference and Trade Show for the Drone and Unmanned Technology Industry 2UNMANNED SYSTEMS 2015: Largest International Conference and Trade Show for the Drone and Unmanned Technology Industry 3UNMANNED SYSTEMS 2015: Largest International Conference and Trade Show for the Drone and Unmanned Technology Industry 4UNMANNED SYSTEMS 2015: Largest International Conference and Trade Show for the Drone and Unmanned Technology Industry 5Wocket, the Smartest Wallet You Will Ever Own, Announces Shipment to Pre-order Customers 2Wocket, the Smartest Wallet You Will Ever Own, Announces Shipment to Pre-order Customers 3Profile Solutions Names Medicinal Cannabis, Agriculture and Technology Expert Dr. Gerry Bedore to its Scientific Advisory Board 2Profile Solutions Names Medicinal Cannabis, Agriculture and Technology Expert Dr. Gerry Bedore to its Scientific Advisory Board 3Profile Solutions Names Medicinal Cannabis, Agriculture and Technology Expert Dr. Gerry Bedore to its Scientific Advisory Board 4
... Friday, April 20, 2012 Researchers from Cleveland ... greater consumption of sugar-sweetened and low-calorie sodas is associated ... caffeinated or decaffeinated coffee was associated with a lower ... American Journal of Clinical Nutrition is ...
... On the second anniversary of the Deepwater Horizon blowout, ... scientist Samantha Joye is urging the federal government to reassess ... occur in the future. The 22 researchers, whose paper ... , noted that the 2010 Deepwater Horizon oil spill was ...
... 19, 2012 From cognitive neuroscience to theoretical ... Research Fellows from the University of Houston (UH) ... ranging from medicine to energy. Recognizing ... in NSF-supported science, technology, engineering and mathematics disciplines, ...
Cached Biology News:Study finds soda consumption increases overall stroke risk 2Marine scientists urge government to reassess oil spill response 2Marine scientists urge government to reassess oil spill response 3Marine scientists urge government to reassess oil spill response 45 NSF Graduate Research Fellowships awarded to UH students, alumna 25 NSF Graduate Research Fellowships awarded to UH students, alumna 3
(Date:4/30/2015)... ALEXANDRIA, Va. , April 30, 2015 ... provides senior debt to life sciences and healthcare services ... senior secured term loan agreement with Celula, Inc., a ... diagnosing major diseases, enabling better patient care and improved ... continue the development and expand the commercialization of its ...
(Date:4/30/2015)... , April 30, 2015  Pfenex Inc. (NYSE ... the development of biosimilar therapeutics including high value ... closing of its previously announced underwritten public offering ... a public offering price of $15.50 per share. ... underwriters of their option to purchase up to ...
(Date:4/30/2015)... Available in select spas in the ... Fleur’s introduces CC CRÈME Perfect Skin ... makeup, skin care and solar protection in one ... with specific complexion-correcting pigments to instantly blur flaws ... healthy glow. Far more than a concealer, it ...
(Date:4/30/2015)... Sterlitech is proud to offer Synder ... PY, and PZ Polyacrylonotrile (PAN) membranes , as ... to be ideal for oil removal in wastewater ... process requirements where the presence of oils in ... on industrial wastewater discharge and quality requirements for ...
Breaking Biology Technology:Oxford Finance Provides $10 Million Debt Financing to Celula 2Pfenex Inc. Announces Closing of Public Offering of Common Stock and Full Exercise of Underwriters' Option to Purchase Additional Shares 2Fleur’s Introduces CC CRÈME Perfect Skin Solution 2Fleur’s Introduces CC CRÈME Perfect Skin Solution 3Sterlitech Offers New Ultrafiltration Membranes 2
... Stem Cell Therapy Better Option for Humans, ... in English,for the first time, The British Institute ... Therapy) training to U.S. medical and,homeopathic practitioners for ... Plant stem cell therapy is more advantageous because,it ...
... Jan. 28 /PRNewswire-FirstCall/ - Quest PharmaTech Inc.,("Quest" ... has signed a,collaborative research agreement with the ... combination therapy for the treatment of lung ... lead oncology product,SL052, with various immunotherapeutic agents. ...
... Phytomedics Inc., a clinical,stage biopharmaceutical company developing novel ... will present at the,Wachovia 2008 Healthcare Conference in ... ET., Among the topics of the presentation ... business developments, including Phase III development,activities related to ...
Cached Biology Technology:Quest PharmaTech and BC Cancer Agency to Develop Immuno Photodynamic Therapies for Lung Cancer 2Quest PharmaTech and BC Cancer Agency to Develop Immuno Photodynamic Therapies for Lung Cancer 3
... bioassays for interferons are cytopathic effect inhibition ... assays. The neutralization assay measures the ... of the cytokine. Sample types include; tissue ... In these assays, one unit is defined ...
... and Protein G bind specifically to Fc ... and Protein G conjugates are commonly used ... and immunoglobulin subtypes from serum, hybridoma ascites ... fluids. These reagents are also commonly used ...
... complete, flexible system designed specifically for ... is frequently required in biological research. ... miniature Clark-style polarographic electrode. Measuring only ... (3.2 mm), it is ideal for ...
... is a member of the family of human cullin ... to the S. cerevisiae cdc53 gene. Cullin-3 is proposed ... forms a tight complex with cyclin E and targets ... protesomes. Cyclin E is an activator of cdk2, which ...
Biology Products: