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 Satellites, airport visibility readings shed light on troops' exposure to air pollution
09.12.2016 | Veterans Affairs Research Communications

nachricht Oxygen can wake up dormant bacteria for antibiotic attacks
08.12.2016 | Penn State

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: Electron highway inside crystal

Physicists of the University of Würzburg have made an astonishing discovery in a specific type of topological insulators. The effect is due to the structure of the materials used. The researchers have now published their work in the journal Science.

Topological insulators are currently the hot topic in physics according to the newspaper Neue Zürcher Zeitung. Only a few weeks ago, their importance was...

Im Focus: Significantly more productivity in USP lasers

In recent years, lasers with ultrashort pulses (USP) down to the femtosecond range have become established on an industrial scale. They could advance some applications with the much-lauded “cold ablation” – if that meant they would then achieve more throughput. A new generation of process engineering that will address this issue in particular will be discussed at the “4th UKP Workshop – Ultrafast Laser Technology” in April 2017.

Even back in the 1990s, scientists were comparing materials processing with nanosecond, picosecond and femtosesecond pulses. The result was surprising:...

Im Focus: Shape matters when light meets atom

Mapping the interaction of a single atom with a single photon may inform design of quantum devices

Have you ever wondered how you see the world? Vision is about photons of light, which are packets of energy, interacting with the atoms or molecules in what...

Im Focus: Novel silicon etching technique crafts 3-D gradient refractive index micro-optics

A multi-institutional research collaboration has created a novel approach for fabricating three-dimensional micro-optics through the shape-defined formation of porous silicon (PSi), with broad impacts in integrated optoelectronics, imaging, and photovoltaics.

Working with colleagues at Stanford and The Dow Chemical Company, researchers at the University of Illinois at Urbana-Champaign fabricated 3-D birefringent...

Im Focus: Quantum Particles Form Droplets

In experiments with magnetic atoms conducted at extremely low temperatures, scientists have demonstrated a unique phase of matter: The atoms form a new type of quantum liquid or quantum droplet state. These so called quantum droplets may preserve their form in absence of external confinement because of quantum effects. The joint team of experimental physicists from Innsbruck and theoretical physicists from Hannover report on their findings in the journal Physical Review X.

“Our Quantum droplets are in the gas phase but they still drop like a rock,” explains experimental physicist Francesca Ferlaino when talking about the...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

Event News

ICTM Conference 2017: Production technology for turbomachine manufacturing of the future

16.11.2016 | Event News

Innovation Day Laser Technology – Laser Additive Manufacturing

01.11.2016 | Event News

#IC2S2: When Social Science meets Computer Science - GESIS will host the IC2S2 conference 2017

14.10.2016 | Event News

 
Latest News

Researchers identify potentially druggable mutant p53 proteins that promote cancer growth

09.12.2016 | Life Sciences

Scientists produce a new roadmap for guiding development & conservation in the Amazon

09.12.2016 | Ecology, The Environment and Conservation

Satellites, airport visibility readings shed light on troops' exposure to air pollution

09.12.2016 | Health and Medicine

VideoLinks
B2B-VideoLinks
More VideoLinks >>>