Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:

 

Sodium channel gene mutation identified in case of familial epilepsy

28.04.2004


Researchers at Emory University have identified a specific mutation in a sodium channel gene (SCN1A) that is associated with epilepsy syndrome in a family. The findings were presented at the American Academy of Neurology in San Francisco on Tuesday, April 27th . The finding adds to a growing body of information about links between genetic mutations and epilepsy; more than two dozen genes implicated in the disease have been discovered to date, according to the Epilepsy Foundation.



"The premise of this study was to enroll families with neurological diseases in which the genetic cause is unknown," says Salina Waddy, MD, associate and post-doctoral fellow in the Department of Neurology, Emory University School of Medicine. "Identifying this novel mutation in a sodium channel gene (SCN1A) on Chromosome 2, which is associated with epilepsy will, in the end, help us learn how to better treat patients and their families who have a type of familial epilepsy called generalized epilepsy with febrile seizures plus (GEFS+)."

Six Caucasian family members who all had GEFS+ were enrolled in the Emory study. GEFS+ is described as a condition where unusual bursts of energy discharge across the entire brain simultaneously, resulting in a seizure that is sometimes associated with high fevers. In most people who have febrile seizures, the seizures go away before the age of 6. In these patients, their febrile seizures occasionally persist beyond age 6, hence the "plus" in the GEFS+ name.


A physical exam, MRI and EEG analyses (electroencephalogram or brain electrical activity recording) were performed on the family member who attends the Emory Epilepsy Clinic in order to confirm the diagnosis. Other family members were interviewed by telephone and medical histories were documented and corroborated by other family members. Once completed, blood samples were taken and DNA was isolated. The researchers then screened the genes in which other GEFS+ mutations have been previously identified and discovered the mutation known as R859C.

"The whole genetic basis of epilepsy is exploding," says Sandra Helmers, MD, associate professor of neurology, Emory University School of Medicine. "The genes for this one particular form of inherited epilepsy (GEFS+) were initially described in the late 90s. This new finding allows us to think about epilepsy in a different light and realize that some epilepsies do run in families. This finding will also allow us to look at better diagnoses, treatments and better genetic counseling for this population."

The study was funded by grants from the Citizens United for Research in Epilepsy (CURE) and the March of Dimes and is a collaboration between members of Emory’s Departments of Neurology and Human Genetics.

"Collaborations such as these are the key to translational research, which will benefit patient care in the long term," says Andrew Escayg, PhD, assistant professor of human genetics in the Emory University School of Medicine. "Multidisciplinary research is becoming more and more important when studying complex neurological disorders, such as epilepsy."

The team of researchers is also trying to identify novel or new genes in other neurological disorders, such as neuromuscular diseases, ataxia, sleep disorders and dystonia.

"By identifying genes and mutations in these specific neurological disorders, we should be able to give more precise care to our patients, as well as give them better answers about their disorders," says Dr. Waddy. "And, with our recent finding in this form of familial epilepsy, I think we are on the right track."

The GEFS+ mutation presentation will be highlighted in two other scientific sessions during the American Academy of Neurology Conference.


Media Contact: Janet Christenbury, 404-727-8599, jmchris@emory.edu.

Janet Christenbury | EurekAlert!
Further information:
http://www.emory.edu/

More articles from Health and Medicine:

nachricht Collagen nanofibrils in mammalian tissues get stronger with exercise
14.12.2018 | University of Illinois College of Engineering

nachricht New discoveries predict ability to forecast dementia from single molecule
12.12.2018 | UT Southwestern Medical Center

All articles from Health and Medicine >>>

The most recent press releases about innovation >>>

Die letzten 5 Focus-News des innovations-reports im Überblick:

Im Focus: Data storage using individual molecules

Researchers from the University of Basel have reported a new method that allows the physical state of just a few atoms or molecules within a network to be controlled. It is based on the spontaneous self-organization of molecules into extensive networks with pores about one nanometer in size. In the journal ‘small’, the physicists reported on their investigations, which could be of particular importance for the development of new storage devices.

Around the world, researchers are attempting to shrink data storage devices to achieve as large a storage capacity in as small a space as possible. In almost...

Im Focus: Data use draining your battery? Tiny device to speed up memory while also saving power

The more objects we make "smart," from watches to entire buildings, the greater the need for these devices to store and retrieve massive amounts of data quickly without consuming too much power.

Millions of new memory cells could be part of a computer chip and provide that speed and energy savings, thanks to the discovery of a previously unobserved...

Im Focus: An energy-efficient way to stay warm: Sew high-tech heating patches to your clothes

Personal patches could reduce energy waste in buildings, Rutgers-led study says

What if, instead of turning up the thermostat, you could warm up with high-tech, flexible patches sewn into your clothes - while significantly reducing your...

Im Focus: Lethal combination: Drug cocktail turns off the juice to cancer cells

A widely used diabetes medication combined with an antihypertensive drug specifically inhibits tumor growth – this was discovered by researchers from the University of Basel’s Biozentrum two years ago. In a follow-up study, recently published in “Cell Reports”, the scientists report that this drug cocktail induces cancer cell death by switching off their energy supply.

The widely used anti-diabetes drug metformin not only reduces blood sugar but also has an anti-cancer effect. However, the metformin dose commonly used in the...

Im Focus: New Foldable Drone Flies through Narrow Holes in Rescue Missions

A research team from the University of Zurich has developed a new drone that can retract its propeller arms in flight and make itself small to fit through narrow gaps and holes. This is particularly useful when searching for victims of natural disasters.

Inspecting a damaged building after an earthquake or during a fire is exactly the kind of job that human rescuers would like drones to do for them. A flying...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

VideoLinks
Industry & Economy
Event News

ICTM Conference 2019: Digitization emerges as an engineering trend for turbomachinery construction

12.12.2018 | Event News

New Plastics Economy Investor Forum - Meeting Point for Innovations

10.12.2018 | Event News

EGU 2019 meeting: Media registration now open

06.12.2018 | Event News

 
Latest News

Pressure tuned magnetism paves the way for novel electronic devices

18.12.2018 | Materials Sciences

New type of low-energy nanolaser that shines in all directions

18.12.2018 | Physics and Astronomy

NASA research reveals Saturn is losing its rings at 'worst-case-scenario' rate

18.12.2018 | Physics and Astronomy

VideoLinks
Science & Research
Overview of more VideoLinks >>>