Severe Child Epilepsy Is Genetic
Researchers have discovered a new genetic cause of a childhood epilepsy syndrome.
They found spontaneous mutations in one gene.
The mutation is called CACNA1E and it disrupts the flow of calcium in braincells.
"Whether or not we can predict disease course and severity from the genetic change is a frequent question from patients, families, and clinicians. There is some suggestion that this may at some point be possible for CACNA1E." First Author Dr. Katherine L.
They found spontaneous mutations in one gene.
The mutation is called CACNA1E and it disrupts the flow of calcium in braincells.
"Whether or not we can predict disease course and severity from the genetic change is a frequent question from patients, families, and clinicians. There is some suggestion that this may at some point be possible for CACNA1E." First Author Dr. Katherine L.