Navigation Links
Catastrophic Epilepsy Caused by Defect in One Gene
Date:7/8/2009

Mouse study led to discovery of mutation and could advance treatments

WEDNESDAY, July 8 (HealthDay News) -- A mutation in a single gene causes catastrophic epilepsy, U.S. scientists say. And that finding, they say, could lead to treatments or a cure for the disorder.

People with catastrophic epilepsy suffer severe muscle spasms, persistent seizures, mental retardation and sometimes autism.

"At present, there is no proven cure to offer children with this specific epilepsy," Dr. Jeffrey Noebels, a professor of neurology, neuroscience and molecular and human genetics at Baylor College of Medicine in Houston, said in a news release from the college. "We now have new clues into the mechanism and have already initiated studies with a new class of drugs not previously explored for this disorder."

Noebels and his team found that a mutation on a gene called Aristaless-related homeobox (ARX) caused catastrophic epilepsy-like symptoms in mice, including muscle spasms, seizures, learning disabilities and reduced social interaction.

When the researchers examined the brains of mice with the mutated gene, they found that interneurons -- a class of cells that inhibit electrical activity in the brain -- had failed to develop in specific areas of the brain.

Mice with the mutation will be "an essential tool to find a cure for the disorder," said Noebels, who is also director of the Blue Bird Circle Developmental Neurogenetics Laboratory at Baylor.

The study is in the July 8 issue of the Journal of Neuroscience.

More information

The Epilepsy Foundation has more about epilepsy.

SOURCE: Baylor College of Medicine, news release, July 7, 2009



-- Robert Preidt



SOURCE: Baylor College of Medicine, news release
'/>"/>

Copyright©2009 ScoutNews,LLC.
All rights reserved  

Page: 1 2

Related medicine news :

1. Catastrophic Head and Neck Injuries Among Focus for NFL Team Physicians and Clinical Staff at Fourth Annual Injuries in Football Conference
2. New edition of the Tobacco Atlas catalogues catastrophic toll of tobacco worldwide
3. New Online Support Site Offers Hope, Information, and Help for Patients Who Have Suffered a Catastrophic Injury
4. Regenstrief Institute tapped by CDC to combat potentially catastrophic disease outbreaks
5. India caught in catastrophic smoking epidemic
6. Epilepsy Services on the Chopping Block
7. Findings in Epilepsy Gene in Animals May Guide Treatment Directions for Infants
8. Findings in epilepsy gene in animals may guide treatment directions for infants
9. FDA Approves Lamictal(R)XR(TM); An Extended-Release Once-Daily, New Generation Treatment for Epilepsy
10. In the Case of Epilepsy, Generic Drugs and Random Product Substitution are Not Always "Good Medicine"
11. Singing brains offers epilepsy and schizophrenia clues
Post Your Comments:
*Name:
*Comment:
*Email:
Related Image:
Catastrophic Epilepsy Caused by Defect in One Gene 
(Date:10/20/2014)... It’s hard to imagine what it’s like to live without ... world, it’s a reality. And while new shoes are considered ... walk barefoot on rocky terrain or sewage-lined streets just to ... , Buckner International's Shoes for Orphan Souls ... to encourage support for Air1 and while also providing new ...
(Date:10/19/2014)... 20, 2014 Hastings and Hastings, a ... of service throughout the greater Phoenix area and across ... with regard to catastrophic automobile accidents. Statistics have indicated ... and throughout Arizona. As such, Hastings and Hastings has ... representation for those who have been injured through no ...
(Date:10/19/2014)... Texas (PRWEB) October 20, 2014 ... development for Partial Seizure, complete with comparative analysis ... mechanism of action (MoA), route of administration (RoA) ... featured news and press releases. It also reviews ... Partial Seizure and special features on late-stage and ...
(Date:10/19/2014)... SweetDressy.com, a professional company of women’s ... for long evening dresses . All the company’s ... the current discount is up to 66 percent off. ... in the fashion field. Its dress specialists are striving ... various parts of the world. All the company’s items ...
(Date:10/19/2014)... that causes inflammation in the spinal joints and ... ancient Egyptian royal families. Now a new study ... journal of the American College of Rheumatology (ACR), ... condition called diffuse idiopathic skeletal hyperostosis (DISH) in ... 20th Dynasties. , Ankylosing spondylitis is a ...
Breaking Medicine News(10 mins):Health News:Buckner Shoes for Orphan Souls® Garners Support from Air1 Radio 2Health News:Buckner Shoes for Orphan Souls® Garners Support from Air1 Radio 3Health News:Hastings And Hastings Reports Record Demand In 2014 For Legal Representation With Regard To Catastrophic Automobile Accidents 2Health News:Hastings And Hastings Reports Record Demand In 2014 For Legal Representation With Regard To Catastrophic Automobile Accidents 3Health News:Partial Seizure Therapeutic Pipeline Market Review H2 2014 in a New Report Available at RnRMarketResearch.com 2Health News:Partial Seizure Therapeutic Pipeline Market Review H2 2014 in a New Report Available at RnRMarketResearch.com 3Health News:Partial Seizure Therapeutic Pipeline Market Review H2 2014 in a New Report Available at RnRMarketResearch.com 4Health News:Promotion For Beautiful Long Evening Dresses Launched By SweetDressy.com 2Health News:Mummy remains refute antiquity of ankylosing spondylitis 2
... March 17 CUREXO Technology Corporation, pioneer in ... products for orthopaedic applications, which is focused on ... they received the NSAI (National Standards of Ireland) ... I.S. EN ISO 13485:2003.CUREXO Technology Company has been ...
... 17 FRIED LICE: "You don,t have to be such a ... manufacturing company, is set to introduce the latest in delousing technology. ... Disease Control "CDC" website. The guidelines are clear in stating: "to ... of 130 degrees." Lice Safe was able to adapt a ...
... finds, , , TUESDAY, March 17 (HealthDay News) -- ... that black male children may have a greater risk ... survey included 8,203 people, from infants to seniors who ... issues with eggs, milk, peanuts and shrimp. The ...
... awarded a project to provide interactive, high-quality medical video for 28 ... will be demonstrating the solutions being implemented at WFUBMC at the ... West Building, Chicago, Illinois. Rivulet is in Booth #2428. , ... ...
... - New $2.1 Million SBIR Grant Extends NHGRI ... Whole Genome Imaging and Analysis Platform -PHILADELPHIA, March ... nanoscale platforms for biomedical research, molecular diagnostics and ... II grant from the National Human Genome Research ...
... Germgard Lighting LLC, a New Jersey-based, early-phase ... revolutionary, ultra-fast, bare-hand sanitation capability. Germgard,s technology will ... by curtailing infections resulting from stays in hospitals.Hospital ... their families, and undermines the financial well-being of ...
Cached Medicine News:Health News:CUREXO Technology Corporation Receives Quality Certificate 2Health News:Lice Safe Introduces Licen Tool 2Health News:Wake Forest Baptist and Rivulet Connect New Operating Rooms with Interactive Video 2Health News:Wake Forest Baptist and Rivulet Connect New Operating Rooms with Interactive Video 3Health News:BioNanomatrix Awarded Phase II NIH Grant to Support Development of Its Single-Molecule Nanoscale Whole Genome Analyzer 2Health News:Disruptive Hand Sanitation Product to Save Healthcare Industry Billions 2
(Date:10/19/2014)... , Deutschland, October 19, 2014 ... gefragt. Das Problem dabei ist, dass ... mit der Kompetenz zu teilen. Es ... deshalb freuen wir uns umso mehr, dass es ... ihre Gepflogenheiten bei Kühlketten aufzuschreiben - mit einem ...
(Date:10/17/2014)... THOUSAND OAKS, Calif. , Oct. 17, 2014 /PRNewswire/ ... appointment of R. Sanders Williams , M.D., president ... L. Mahley Distinguished Professor.  "We are ... the Amgen Board," said Robert A. Bradway , ... deep and distinguished experience in academic medicine and his ...
(Date:10/17/2014)... 2014 ... has announced the addition of the  ... Automated External Defibrillators (AED) Market"  report ... ,The report North American Automated External ... of devices based upon following sub-segments ...
Breaking Medicine Technology:Vergleichsbericht zu Pharma-Kühlketten und CRT 2Amgen Announces Appointment Of R. Sanders Williams To Board Of Directors 2Amgen Announces Appointment Of R. Sanders Williams To Board Of Directors 3Micro Market Monitor : North American Automated External Defibrillators (AED) Market 2
... Symmetry Medical Inc. (NYSE: SMA ), a leading ... and other medical markets, announced today that it will release ... 3, 2009 before the market opens on Thursday, November 5, ... 8:00 a.m. ET on Thursday, November 5, 2009. , ...
... Ikaria Holdings, Inc. today announced that it has been ... by the New Jersey Business & Industry Association (NJBIA), ... Ikaria earned the award based on criteria including ... creation of new jobs. , "We are delighted that ...
Cached Medicine Technology:Symmetry Medical to Report Third Quarter 2009 Financial Results on November 5, 2009 2Ikaria Receives Award for Excellence by New Jersey Business & Industry Association 2
... Para 5X is a whole blood hematology ... 60C+, 80 and 120, and the Coulter ... offers a unique white cell differential, positioning ... algorithms on the systems. The product offers ...
... blood assayed hematology control, offers complete assay ... available with the Coulter GENS, STKS, MAXM ... open-vial stability, 105-day closed-vial stability and is ... The 4.0ml pierceable cap vial is compatible ...
Abiomed introduces its new intra-aortic balloon (IAB); an easy-to-insert, minimally invasive technology designed to enhance blood flow to the heart and other organs for patients with diminished heart...
Diagnosoft HARP is designed for rapid analysis of tagged cardiac MR images using the HARP technology, which is packaged into an intuitive, easy-to-use graphic user interface....
Medicine Products: