Featured Research

from universities, journals, and other organizations

Sodium Channel Gene Mutation Identified In Case Of Familial Epilepsy

Date:
April 28, 2004
Source:
Emory University Health Sciences Center
Summary:
Researchers at Emory University have identified a specific mutation in a sodium channel gene (SCN1A) that is associated with epilepsy syndrome in a family.

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.

Related Articles


"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.


Story Source:

The above story is based on materials provided by Emory University Health Sciences Center. Note: Materials may be edited for content and length.


Cite This Page:

Emory University Health Sciences Center. "Sodium Channel Gene Mutation Identified In Case Of Familial Epilepsy." ScienceDaily. ScienceDaily, 28 April 2004. <www.sciencedaily.com/releases/2004/04/040428061427.htm>.
Emory University Health Sciences Center. (2004, April 28). Sodium Channel Gene Mutation Identified In Case Of Familial Epilepsy. ScienceDaily. Retrieved March 1, 2015 from www.sciencedaily.com/releases/2004/04/040428061427.htm
Emory University Health Sciences Center. "Sodium Channel Gene Mutation Identified In Case Of Familial Epilepsy." ScienceDaily. www.sciencedaily.com/releases/2004/04/040428061427.htm (accessed March 1, 2015).

Share This


More From ScienceDaily



More Health & Medicine News

Sunday, March 1, 2015

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

Could a $34 Smartphone Device Improve HIV Diagnosis in Africa?

Could a $34 Smartphone Device Improve HIV Diagnosis in Africa?

Reuters - Innovations Video Online (Feb. 27, 2015) A dongle that plugs into a Smartphone mimics a lab-based blood test for HIV and syphilis and can detect the diseases in 15 minutes, say researchers. Tara Cleary reports. Video provided by Reuters
Powered by NewsLook.com
Doctor Says Head Transplants Possible Within Two Years

Doctor Says Head Transplants Possible Within Two Years

Buzz60 (Feb. 27, 2015) An Italian doctor is saying he could stick someone&apos;s head onto someone else&apos;s body. Patrick Jones (@Patrick_E_Jones) reports. Video provided by Buzz60
Powered by NewsLook.com
How Your Dentist Could Help Screen You For Diabetes

How Your Dentist Could Help Screen You For Diabetes

Newsy (Feb. 27, 2015) A new study from researchers at New York University suggests dentists could soon use blood samples taken from patients&apos; mouths to test for diabetes. Video provided by Newsy
Powered by NewsLook.com
The Best Tips to Makeover Your Health

The Best Tips to Makeover Your Health

Buzz60 (Feb. 27, 2015) If you&apos;re looking to boost your health this season, there are a few quick and easy steps to prompt you for success. Krystin Goodwin (@Krystingoodwin) has the best tips to give your health a makeover this spring! Video provided by Buzz60
Powered by NewsLook.com

Search ScienceDaily

Number of stories in archives: 140,361

Find with keyword(s):
Enter a keyword or phrase to search ScienceDaily for related topics and research stories.

Save/Print:
Share:

Breaking News:

Strange & Offbeat Stories


Health & Medicine

Mind & Brain

Living & Well

In Other News

... from NewsDaily.com

Science News

Health News

Environment News

Technology News



Save/Print:
Share:

Free Subscriptions


Get the latest science news with ScienceDaily's free email newsletters, updated daily and weekly. Or view hourly updated newsfeeds in your RSS reader:

Get Social & Mobile


Keep up to date with the latest news from ScienceDaily via social networks and mobile apps:

Have Feedback?


Tell us what you think of ScienceDaily -- we welcome both positive and negative comments. Have any problems using the site? Questions?
Mobile: iPhone Android Web
Follow: Facebook Twitter Google+
Subscribe: RSS Feeds Email Newsletters
Latest Headlines Health & Medicine Mind & Brain Space & Time Matter & Energy Computers & Math Plants & Animals Earth & Climate Fossils & Ruins