Monday, October 17, 2011

New Genetic Insights Advance Understanding of Epilepsy

Like pivotal puzzle pieces, new genetic and molecular clues to the etiology of epilepsy are bringing into focus processes that have long perplexed clinicians and researchers.

New genetic findings and the unmasking of epileptogenic molecular seizure responses were among the advances outlined by speakers at the meeting’s presidential symposium.

Dr. Samuel F. Berkovic, codiscoverer of the first epilepsy gene in 1995, announced that "the impact of the new genetics is here now for clinical neurologists," bringing abundant opportunities for translational research and the possibility of unraveling causation within families burdened by epilepsy.

Population studies, twin studies, and multiplex family studies now point to a far greater impact of genetics on the development of epilepsy than ever suspected, said Dr. Berkovic, director of the Epilepsy Research Centre and laureate professor of medicine at the University of Melbourne.

His center’s study of more than 300 twins with epilepsy has now detected a concordance rate of 0.73 for generalized epilepsy among monozygous twins.

"That’s about as high as it gets in any complex disease," he said.

Monozygous concordance rates for focal epilepsy (0.34) and febrile epilepsy (0.60) were also much higher than anticipated, he said.

Epilepsy due to a single genetic mutation has proved to be rare, but "the smart money is going to be downstream, ... [with] a whole array of variants acting on common pathways."

Read more:

No comments: