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, July 7, 2009


'/>"/>
Copyright©2009 ScoutNews,LLC.
All rights reserved  

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:1/19/2017)... ... 18, 2017 , ... The CHP suggests that California drivers can avoid hydroplaning ... down and increasing the space between themselves and other vehicles, according to a January ... Raymond R. Hassanlou notes that, rain or shine, drivers should always incorporate safe driving ...
(Date:1/19/2017)... Norwalk, CT (PRWEB) , ... January 19, 2017 , ... ... Dr. Sang H. Kim, a highly experienced and compassionate dermatologist. Dr. Kim brings ... skincare center . , “It is with considerable pleasure to welcome back Dr. Kim ...
(Date:1/19/2017)... ... 19, 2017 , ... Sales Focus Inc. (SFI), a Maryland-based sales outsourcing company, ... Over the past 20 years SFI has been recognized as the world’s leader in ... clients into the US market. The new clients include: Panacea Pro, Campseekers, Contentmart, ...
(Date:1/19/2017)... Seabrook, NH (PRWEB) , ... January 19, 2017 , ... ... develop its business plan and implement new sales and marketing strategies. Grover comes with ... spent the last 5 and a half years as Executive Vice President of Direct ...
(Date:1/19/2017)... ... January 19, 2017 , ... ... the American Osteopathic College of Proctology) announced today the opening of 3 ... California ( http://www.hemorrhoidsremovalcenterscalifornia.com ): Hemorrhoids Center of Los Angeles (Beverly Hills), Hemorrhoids ...
Breaking Medicine News(10 mins):
(Date:1/19/2017)... , Jan. 19, 2017 The U.S. Food and ... Chronic Idiopathic Constipation (CIC) in adult patients. ... gastrointestinal disorders," said Julie Beitz , M.D., director of ... for Drug Evaluation and Research. "With the availability of new ... treatment for their condition." ...
(Date:1/19/2017)... 2017  Stealth BioTherapeutics Inc. ( Stealth ), a ... today announced new additions to its senior leadership team: ... Officer, and Daniel Geffken as interim Chief ... Carr , Pharm.D. has been promoted to Chief Clinical ... welcome Doug and Daniel to our management team, as ...
(Date:1/19/2017)... 2017 James Gilbart ... Haematology, 2016;12(Suppl 2):3-8; http://www.touchoncology.com/articles/optimising-clinical-outcomes-gastrointestinal-cancers-through-inhibiting-angiogenesis-and ... ... Published recently in a supplement to European Oncology ... an article by James Gilbart and ...
Breaking Medicine Technology: