Genetic epilepsy can originate in the embryo, study shows

Sep 30, 2010

A study of identical twins shows that a rare genetic form of epilepsy can be caused by a genetic mutation that occurs in the embryo, and not necessarily passed down from parents.

The study was led by the University of Melbourne and Austin Health and published today in the .

Professor Berkovic, Director of the Comprehensive Epilepsy Program at Austin Health and Epilepsy Research Centre at the University of Melbourne and lead investigator on the study said this is an exciting finding revealing how a mutation in the embryo can cause genetic epilepsy to occur.

“While this study focused on an uncommon form of epilepsy, this finding may have implications for those with other forms of genetic epilepsy, and in fact, other types of genetic disease,” Professor Berkovic said.

While this discovery was made by studying a limited group of people - those who have an identical twin with a particular form of epilepsy known as Dravet’s syndrome - researchers believe it could have wider implications for siblings of people with other genetic diseases that could be caused by genetic mutation in an embryo rather than in the germ (sperm or egg) cells of the parents.

Researchers have previously believed that new mutations for epilepsy and other diseases usually occur in the sperm or egg cells of the parents, but, by using , the study shows that mutation may occur shortly after fertilization.

If a test could be developed in the future to verify that there has been no mutation in the germ cells of the parents, siblings of a child with a disease caused by a genetic mutation could rule out the likelihood of passing it on to their own children.

“This really shows the value of studying identical twins to make genetic discoveries that are otherwise effectively invisible to scientists when studying other members of the population,” Professor Berkovic said.

The study was conducted in collaboration with the Research Program, SA, Pathology at Women’s and Children’s Hospital, North Adelaide, SA, and the National Center for Adult Stem Cell Research, Griffith University QLD.

Explore further: The impact of bacteria in our guts

add to favorites email to friend print save as pdf

Related Stories

Severe Epilepsy Linked to Gene Mutation

Sep 14, 2009

University of Utah medical researchers have identified a gene with mutations that cause febrile seizures and contribute to a severe form of epilepsy known as Dravet syndrome in some of the most vulnerable patients - infants ...

Epilepsy gene identified in mice

Jan 17, 2007

Researchers from the Wellcome Trust Centre for Human Genetics at Oxford University have discovered a gene in mice which is involved in epilepsy and learning disabilities in humans.

Recommended for you

The impact of bacteria in our guts

14 minutes ago

The word metabolism gets tossed around a lot, but it means much more than whether you can go back to the buffet for seconds without worrying about your waistline. In fact, metabolism is the set of biochemical ...

Stem cell therapies hold promise, but obstacles remain

36 minutes ago

(Medical Xpress)—In an article appearing online today in the journal Science, a group of researchers, including University of Rochester neurologist Steve Goldman, M.D., Ph.D., review the potential and ch ...

New hope in fight against muscular dystrophy

1 hour ago

Research at Stockholm's KTH Royal Institute of Technology offers hope to those who suffer from Duchenne muscular dystrophy, an incurable, debilitating disease that cuts young lives short.

Biologists reprogram skin cells to mimic rare disease

19 hours ago

Johns Hopkins stem cell biologists have found a way to reprogram a patient's skin cells into cells that mimic and display many biological features of a rare genetic disorder called familial dysautonomia. ...

User comments : 0