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:11/7/2014)... CORAL SPRINGS, Florida , November 6, 2014 ... improved secure authentication for better mobile security revolutionizing online transactions. ... NXTD ), Alibaba Holdings Ltd. (NYSE: BABA ), ... MSFT ), eBay Inc. (NASDAQ: EBAY ... (NASDAQ: NXTD and NXTDW), a biometric authentication ...
(Date:11/5/2014)... of biology in the UTSA College of Sciences, ... selected to receive a two-year $300,00 National Science ... (EAGER). The funding supports President Obama,s BRAIN Initiative, ... new technology that will demystify complex brain processes. ... neuroscience are broken into the interactions of multiple ...
(Date:11/4/2014)... – Temple University School of Medicine announced today ... an initiative funded by the Bill & Melinda ... of Obstetrics, Gynecology and Reproductive Sciences; and Vice ... University School of Medicine will pursue an innovative ... Blood Biomarkers to Assess Fetal Neurodevelopment.", Grand Challenges ...
Breaking Biology News(10 mins):Universal Authentication Methods Provide More Secure Operations for Biometrics Devices - Company Joins FIDO Alliance for Consumer Protection 2Universal Authentication Methods Provide More Secure Operations for Biometrics Devices - Company Joins FIDO Alliance for Consumer Protection 3Universal Authentication Methods Provide More Secure Operations for Biometrics Devices - Company Joins FIDO Alliance for Consumer Protection 4Universal Authentication Methods Provide More Secure Operations for Biometrics Devices - Company Joins FIDO Alliance for Consumer Protection 5Universal Authentication Methods Provide More Secure Operations for Biometrics Devices - Company Joins FIDO Alliance for Consumer Protection 6UTSA biology professor awarded $300,000 NSF grant for brain research 2UTSA biology professor awarded $300,000 NSF grant for brain research 3Temple University School of Medicine receives Grand Challenges Explorations grant 2
... at the University of Wisconsin-Madison may represent a significant ... that would use this abundant element to store and ... non-carbon, non-polluting fuel for storing intermittent energy from the ... water but no carbon dioxide. Practically speaking, producing hydrogen ...
... U.S. Department of Energy,s Brookhaven National Laboratory have identified ... human adenovirus, a cause of ailments ranging from colds ... in FEBS Letters , a journal of the ... sifted through thousands of compounds to determine which might ...
... have alteration in metabolic pathways as a result of ... 2-related factor 2) works as a "master gene" that ... pollutant-detoxifying genes to protect the lungs from variety of ... However, researchers at the Johns Hopkins Bloomberg School of ...
Cached Biology News:New catalyst could cut cost of making hydrogen fuel 2Scientists identify promising antiviral compounds 2Scientists identify promising antiviral compounds 3Hijacking stress response in cancer 2
(Date:11/26/2014)... 26, 2014 The Alliance for ... survey of European physicians at the "1 ST ... Biological Therapies" at the Spanish Ministry of Health, ... EuropaBio and the Spanish Bioindustry Association (ASEBIO), included ... from Spanish oncology and rheumatology societies, representatives from ...
(Date:11/26/2014)... PMG Research, Inc. announced today the formation of ... sites that provide clinical research services to pharmaceutical companies and ... its partnerships with large physician practices and integrated health systems. ... the Southeastern United States and spans over 60 physician practices. ... will be held by: Dr. Robert Holmes, MD, of PMG ...
(Date:11/26/2014)... 2014 Silicon Valley Electronic Data Capture ... RPM Alliance , provider of clinical research and data ... latest addition to its CRO Partnership Program, Clinovo expands ... to India. , “We have found Clinovo’s ClinCapture ... EDC platform which is both user friendly and easy ...
(Date:11/26/2014)... 25, 2014 Global biostimulants market ... growing at an estimated CAGR of 12.5%. In ... food products with least ecological impacts, farmers are ... to boost crop yield more effectively & efficiently. ... can improve the return on investments. , Leading ...
Breaking Biology Technology:ASBM Presents European Physicians Survey at Spanish Ministry of Health 2PMG Research Names Medical Advisory Board 2PMG Research Names Medical Advisory Board 3RPM Alliance Joins Clinovo’s CRO Partnership Program, Further Strengthening Its Presence in Southern California and India 22019 Biostimulants Market to Grow at a CAGR of 12.5% Says a New Research Report Available at RnRMarketResearch.com 22019 Biostimulants Market to Grow at a CAGR of 12.5% Says a New Research Report Available at RnRMarketResearch.com 32019 Biostimulants Market to Grow at a CAGR of 12.5% Says a New Research Report Available at RnRMarketResearch.com 4
... surgeons, MONTVALE, N.J., June 3 ... information dedicated to enhancing the surgeon,s,practice, has ... engine tool:,SURGERYFINDIT.COM ( http://www.SURGERYFINDIT.COM )., As ... provide,general surgeons with a wealth of peer-reviewed, ...
... June 3 National Stem Cell,Holding, Inc. (Pink ... Steiner, MD, MBA, as its Chief Operating Officer. ... proven management and business skills.,After establishing a private ... medical and business consultant to numerous Fortune 500 ...
... ANGELES, June 3 Signalife, Inc. (Amex:,SGN) has ... Ehrlichman -- who is,already a member of the ... Operating Officer. In that capacity, Mr. Ehrlichman,s primary ... will be on,sales and marketing of the company,s ...
Cached Biology Technology:SURGERYFINDIT.COM and Convera(R) Launch Vertical Search Site for Surgeons 2National Stem Cell Holding Appoints Kenneth Steiner, MD, MBA, as Chief Operating Officer 2National Stem Cell Holding Appoints Kenneth Steiner, MD, MBA, as Chief Operating Officer 3Signalife Appoints Lee Ehrlichman President and Chief Operating Officer 2Signalife Appoints Lee Ehrlichman President and Chief Operating Officer 3
...
X-Gal, 1 g. 5-Bromo-4-chloro-3-indolyl-b-d-galactoside.Histochemical substrate for b-galactosidase, used in blue/white screening.Store at -20 C. Protect from moisture. Category: Nucleotides & Enzymes...
Conjugation services for Antibodies, Proteins, Oligos, Peptides, Beads, bioconjugation, antibody-oligonucleotide, LNA peptide, LNA protein, LNA antibody, HRP, Alkaline phosphatase, phycoerythrin, FIT...
FGF Receptor 1 Antibody...
Biology Products: