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 'Icebreaker' protein opens genome for t cell development, Penn researchers find
21.02.2018 | University of Pennsylvania School of Medicine

nachricht Similarities found in cancer initiation in kidney, liver, stomach, pancreas
21.02.2018 | Washington University School of Medicine

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: In best circles: First integrated circuit from self-assembled polymer

For the first time, a team of researchers at the Max-Planck Institute (MPI) for Polymer Research in Mainz, Germany, has succeeded in making an integrated circuit (IC) from just a monolayer of a semiconducting polymer via a bottom-up, self-assembly approach.

In the self-assembly process, the semiconducting polymer arranges itself into an ordered monolayer in a transistor. The transistors are binary switches used...

Im Focus: Demonstration of a single molecule piezoelectric effect

Breakthrough provides a new concept of the design of molecular motors, sensors and electricity generators at nanoscale

Researchers from the Institute of Organic Chemistry and Biochemistry of the CAS (IOCB Prague), Institute of Physics of the CAS (IP CAS) and Palacký University...

Im Focus: Hybrid optics bring color imaging using ultrathin metalenses into focus

For photographers and scientists, lenses are lifesavers. They reflect and refract light, making possible the imaging systems that drive discovery through the microscope and preserve history through cameras.

But today's glass-based lenses are bulky and resist miniaturization. Next-generation technologies, such as ultrathin cameras or tiny microscopes, require...

Im Focus: Stem cell divisions in the adult brain seen for the first time

Scientists from the University of Zurich have succeeded for the first time in tracking individual stem cells and their neuronal progeny over months within the intact adult brain. This study sheds light on how new neurons are produced throughout life.

The generation of new nerve cells was once thought to taper off at the end of embryonic development. However, recent research has shown that the adult brain...

Im Focus: Interference as a new method for cooling quantum devices

Theoretical physicists propose to use negative interference to control heat flow in quantum devices. Study published in Physical Review Letters

Quantum computer parts are sensitive and need to be cooled to very low temperatures. Their tiny size makes them particularly susceptible to a temperature...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

VideoLinks
Industry & Economy
Event News

2nd International Conference on High Temperature Shape Memory Alloys (HTSMAs)

15.02.2018 | Event News

Aachen DC Grid Summit 2018

13.02.2018 | Event News

How Global Climate Policy Can Learn from the Energy Transition

12.02.2018 | Event News

 
Latest News

Researchers invent tiny, light-powered wires to modulate brain's electrical signals

21.02.2018 | Life Sciences

The “Holy Grail” of peptide chemistry: Making peptide active agents available orally

21.02.2018 | Life Sciences

Atomic structure of ultrasound material not what anyone expected

21.02.2018 | Materials Sciences

VideoLinks
Science & Research
Overview of more VideoLinks >>>