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:10/13/2017)... ... , ... Many families have long-term insurance that covers care for a family ... for care if the client has a cognitive impairment diagnosis. , “What this ... often waived, so the benefits from their insurance start immediately,” said Mechell Vieira, owner ...
(Date:10/13/2017)... ... 2017 , ... Global Healthcare Management’s 4th Annual Kids Fun Run brought out ... free event, sponsored by Global Healthcare Management’s CEO, Jon Letko, is aimed at getting ... children of all ages; it is a non-competitive, non-timed event, which is all about ...
(Date:10/13/2017)... ... October 13, 2017 , ... Coveros, a leader in agile ... a contract by the Center for Medicare and Medicaid Services (CMS). The Enterprise ... use of Agile methodologies in a consistent and high value manner across CMS ...
(Date:10/12/2017)... (PRWEB) , ... October 12, 2017 , ... ... advisory services for healthcare compliance program management, will showcase a range of technology ... Association for Assisted Living (NCAL) Convention and Expo to be held October 14–18, ...
(Date:10/12/2017)... ... October 12, 2017 , ... The company has developed a ... and regulatory authorities worldwide. From Children’s to Adults 50+, every formula has been ... standard. , These products are also: Gluten Free, Non-GMO, Vegan, Soy Free, ...
Breaking Medicine News(10 mins):
(Date:10/4/2017)... Centers for Disease Control and Prevention (CDC), influenza vaccination should take ... communities across Massachusetts , Connecticut , ... through the end of the month. *Some exclusions apply ... ... by the end of October, according to the Centers for Disease Control ...
(Date:10/2/2017)... Mich. , Oct. 2, 2017 Diplomat ... 8th Day Software and Consulting, LLC , and ... 8th Day Software, based in Tennessee ... LLC. 8th Day expands EnvoyHealth,s service offerings for health ... development. "In an ...
(Date:10/2/2017)... Fla. , Oct. 2, 2017  AllianceRx Walgreens ... company formed by Walgreens and pharmacy benefit manager Prime ... its new brand, which included the unveiling of new ... , as well as at a few other ... the new brand to patients, some of whom will ...
Breaking Medicine Technology: