News

We have moved!

But we are still in New York. In September we moved from Columbia University to Mount Sinai School of Medicine. Mount Sinai has offered great support for the study and Dr. Irina Belaspova who recently worked on progressive myoclonic epilepsy of Unverricht-Lundborg is helping us with all laboratory aspects of the study.

First exiting results

After collecting data for many years, we now have the first results from the lab!

As hypothesized, there are many genes involved in CAE.

We found an area on the 8th chromosome that contributes to absence seizures. On the other hand we found evidence for an area on the 5th chromosome that raises susceptibility not only to absence seizures but also to "big" or grand mal seizures.

We also found other weaker signals, which we would like to follow up in more families.

More work ahead

We started the second phase of this project in which we narrow the areas that harbor potential absence susceptibility genes, which we have identified through studying families.

For this we are comparing CAE patients with healthy controls. Since we hadn't collected DNA from healthy people, Dana spent much time finding appropriate controls for our sample of patients that represent a good 'match' for them.

The lab is currently busy working on those samples and we expect new results soon.

Why are children with absence absent?

Have you ever wondered why children with absence seizures have attention problems?

Researchers at Yale University are trying to answer this question.

They are conducting a Brain Imaging Study to examine which different brain regions are involved in Childhood Absence Epilepsy and how they agreed to attention and cognition.

For further information please contact Dr. Hal Blumenfeld via email.