Corporate Banner
Satellite Banner
Scientific Community
Become a Member | Sign in
Home>News>This Article

Epilepsy Genes may Cancel Each Other

Published: Tuesday, November 06, 2007
Last Updated: Tuesday, November 06, 2007
Bookmark and Share
Inheriting two genetic mutations that can individually cause epilepsy might actually be "seizure-protective," according to Baylor College of Medicine researchers.

Inheriting two genetic mutations that can individually cause epilepsy might actually be "seizure-protective," said Baylor College of Medicine researchers in a report that appeared online in the journal Nature Neuroscience.

"In the genetics of the brain, two wrongs can make a right," said Dr. Jeffrey L. Noebels, professor of neurology, neuroscience and molecular and human genetics at BCM. "We believe these findings have great significance to clinicians as we move toward relying upon genes to predict neurological disease."

In addition, the finding might point the way to new ways of treating epilepsy using gene-directed therapy.

"If you have a potassium channel defect, then a drug blocking certain calcium channels might also benefit you," said Noebels.

Noebels and his colleagues, who included first author Dr. Ed Glasscock, a post-doctoral researcher at BCM, tested this hypothesis by breeding mice with two defective genes that govern ion channels, tiny pores in cells that allow molecules such as potassium and calcium to flow in and out.

The genes were known to cause epilepsy when inherited singly within families. They have also been found in a large-scale screen of people with non-familial seizure disorders being performed in collaboration with the Baylor Human Genome Sequencing Center.

One is a mutation in the Kcna1 gene involved in the channel that allows potassium to flow in and out of the cell. It causes severe seizures affecting the brain's temporal lobe, an area of the brain involved in processing sight, sound, speech and forming memories. It can also cause sudden death in young mice.

The other mutation is in a calcium channel gene (Cacna1a) that causes a specific type of seizure associated with absence epilepsy. When people suffer these seizures, they may appear to be staring into space and do not exhibit the jerking or movements generally associated with epilepsy.

When both types of mutation occurred in the same young mouse, that animal had dramatically reduced seizures and did not suffer the sudden death associated with the potassium channel problem.

Noebels, who is also director of the Developmental Neurogenetics Laboratory funded by the National Institutes of Health and Blue Bird Circle Foundation, said, "Rather than screening for 'bad' genes one at a time, it may be essential to create a complete profile of many or even all genes in order to accurately assess the true genetic risk of any single defect in many common disorders such as epilepsy. Fortunately, this amount of background information will soon become routinely obtainable in individual patients thanks to rapid technological progress in the field of neurogenomics."

Many different genes can lead to seizure disorders. In some cases, they encode ion channels that adjust the way neurons fire. Previous work indicated that combinations of such genes could make epilepsy worse. However, certain combinations may actually prevent the abnormal patterns of epilepsy, acting as "circuit breakers," said Noebels.

The article can be found at

Further Information
Access to this exclusive content is for Technology Networks Premium members only.

Join Technology Networks Premium for free access to:

  • Exclusive articles
  • Presentations from international conferences
  • Over 2,800+ scientific posters on ePosters
  • More than 4,000+ scientific videos on LabTube
  • 35 community eNewsletters

Sign In

Forgotten your details? Click Here
If you are not a member you can join here

*Please note: By logging into you agree to accept the use of cookies. To find out more about the cookies we use and how to delete them, see our privacy policy.

Related Content

Baylor, DNAnexus Collaborate
Partnership sets out to develop HgV, a new iteration of HGSC's Mercury, a BCM-developed data processing and variant calling pipeline for analyzing and annotating next-generation sequencing data in research and clinical contexts.
Tuesday, June 23, 2015
Baylor, TGen Collaborate on Personalized Cancer Treatment Options
The companies will collaborate on precision medicine for cancer patients by offering liquid biopsies, performing gene sequencing, conducting clinical trials, and creating personalized vaccines.
Tuesday, May 26, 2015
Collaboration Unravels Novel Mechanism for Neurological Disorder
The novel gene (CLP1) associated with a neurological disorder affecting both the peripheral and central nervous systems.
Saturday, April 26, 2014
$3M NIH Grant Enables Baylor International HIV/AIDS Program
Researchers to study genetic differences of disease in sub-Saharan African children.
Wednesday, February 19, 2014
Baylor College of Medicine, Berry Genomics Co. Seek to Improve on Prenatal Genetic Tests
Teams aim to improve prenatal genetic testing by combining BCM’s expertise in using microarrays for DNA analysis and Berry’s non-invasive technology evaluating fetal DNA in maternal plasma.
Monday, January 07, 2013
Protein 'Tubules' Free Avian Flu Virus from Immune Recognition
Two domains or portions of the protein NS1 combine to form tiny tubules where double-stranded RNA is hidden from the immune system, researchers say.
Friday, November 07, 2008
Lack of Fragile X, Related Gene Disrupts Sleep
Deficiency of the FMR1 gene and a similar gene called FXR2 could account for sleep problems associated with inherited mental impairment.
Friday, June 27, 2008
Nature Mixes, Matches Genes to Keep Nerve Cells Straight
BCM researchers report that nature has to mix and match thousands of genes to generate the myriad types of neurons needed to assemble the brain and nervous system.
Thursday, June 12, 2008
Findings Indicate How Gene Transcription is Controlled in Embryonic Stem Cells
In a report that appears in the journal Nature Cell Biology, BCM researchers explain that association determines fate in embryonic stem cells.
Monday, May 05, 2008
Notch Controls Bone Formation and Strength
Notch, a protein that governs cell differentiation process in embryos, plays a critical role in bone formation and strength later in life.
Monday, February 25, 2008
BCM Human Microbiome Projects to Sequence 150 Bacteria, Sample Human Metagenome
A $2.3 million NHGRI grant will enable researchers to determine the genetic code of bacteria that colonize healthy humans and study the structure of microbial communities from five regions of the human body.
Tuesday, November 06, 2007
Scientific News
Tardigrade's Are DNA Master Thieves
Tardigrades, nearly microscopic animals that can survive the harshest of environments, including outer space, hold the record for the animal that has the most foreign DNA.
The Secret Behind the Power of Bacterial Sex
Migration between different communities of bacteria is the key to the type of gene transfer that can lead to the spread of traits such as antibiotic resistance, according to researchers at Oxford University.
Farming’s in Their DNA
Ancient genomes reveal natural selection in action.
GMO Food Animals Should be Judged by Product, Not Process
In a world with a burgeoning demand for meat, milk and eggs, regulatory policies around the use of biotechnologies in agriculture need to be based on the safety and attributes of those foods rather than on the methods used to produce them, says a UC Davis animal scientist.
Enzyme Critical to Maintaining Telomere Length Discovered
New method expected to speed understanding of short telomere diseases and cancer.
Gene Drive Reversibility Introduces New Layer of Biosafety
Ability to introduce or reverse the spread of genetic traits through populations could one day improve pest management and disease control.
RNA-Based Drugs Give More Control Over Gene Editing
CRISPR/Cas9 gene editing technique can be transiently activated and inactivated using RNA-based drugs, giving researchers more precise control in correcting and inactivating genes.
University of Glasgow Researchers Make An Impact in 60 Seconds
Early-career researchers were invited to submit an engaging, dynamic and compelling 60 second video illuminating an aspect of their research.
Metabolic Profiles Distinguish Early Stage Ovarian Cancer with Unprecedented Accuracy
Studying blood serum compounds of different molecular weights has led scientists to a set of biomarkers that may enable development of a highly accurate screening test for early-stage ovarian cancer.
Dead Bacteria to Kill Colorectal Cancer
Scientists from Nanyang Technological University (NTU Singapore) have successfully used dead bacteria to kill colorectal cancer cells.
Skyscraper Banner

Skyscraper Banner
Go to LabTube
Go to eposters
Access to the latest scientific news
Exclusive articles
Upload and share your posters on ePosters
Latest presentations and webinars
View a library of 1,800+ scientific and medical posters
2,800+ scientific and medical posters
A library of 2,500+ scientific videos on LabTube
4,000+ scientific videos