Epilepsy Connections: ECA
NEW STUDY ON GENETIC EPILEPSY PROVIDES HOPE & INSIGHT FOR SEVERE CHILDHOOD EPILEPSY.
Updated: Dec 7, 2018
We thought this was an important article to publish and highlight as it shows how modern research is finding out the actual causes (and possible treatments) for Epilepsy.
It is commonly felt that Epilepsy is around 30 - 40 years behind research into cancer. This is due not only to the lack of research and funding compared to other diseases
The below linked article is exciting research into de novo gene variants (present in children but not parents) that are increasingly being found in severe childhood Epilepsy. In this case specifically they look at de novo gene variations in the "CACNA1E gene" and how genetic mutations therein can disrupt a calcium channel in brain cells, causing the channel to activate too easily or to inactivate too slowly, causing flaring. In some cases the study team found the increase in calcium current was too high to even measure.
Very insightful, exciting research, and shows just how much further and faster Epilepsy research is actually progressing - we invite all to have a look. We have provided the post to our own story on the topic plus the actual medical publication on the research itself