Advances in genetics have benefited epilepsy and other neurological diseases. Genetics is currently an important part of epilepsy diagnosis. A half century ago, when I was in neurological training, bacterial, fungal, and other identifiable infections and afflictions could be identified. They could be seen in the microscope and in cultures in the laboratory. When these tests and searches were negative, however, we would usually settle on an elusive virus diagnosis. Viral diseases were often difficult to prove. Then, we were so ignorant in dealing with many diseases, as patients know.
Neurogenetic advances over past decades have shown that genetic abnormalities in our bodies can be identified. These advances improve making a diagnosis and can even bring hope for treatment in previously untreatable diseases. Dr. Deepa S. Rajan, Director of the Neurogenetics Clinic at the University of Pittsburgh Medical Center Children’s Hospital teaches that genetics is currently an integral part of neurological disease diagnosis. “Epilepsy and other diseases are being looked at with fresh eyes.”1
When MRI scans and other sophisticated medical tests show no obvious cause for epilepsy, genetic testing is available. Genetics could show a reason and should be considered. Dr. David Bearden, assistant professor of neurology and pediatrics at the University of Rochester, finds: “If you take all patients with treatment-resistant epilepsy and early-onset epilepsy, we can find a genetic cause in 30-50 percent. However, in kids seizures that respond to the first-line drugs and whose seizures are controlled, a genetic cause usually is not demonstrated.”2
For example, finding the genetic underpinning in an infant with seizures might show the genetic mutation associated with increased or decreased sodium activity in cells. Sodium channel-blocking drugs could benefit one patient whereas another gene could be found associated with decreased sodium channel function; in these patients, blocker-medications should be avoided. Also, genetic knowledge may benefit prognosis and more accurately predict prognosis, “Your child is likely to grow out of this, or not.” The work of understanding the mechanism of genes and genetic pathways is far from complete.
Amyotrophic lateral
sclerosis (Lou Gerhig’s disease) that wastes muscles and is usually fatal and
Alzheimer’s disease are more common neurological diseases that have benefited
from genetic advances.
1)
Rajan D.S. Neurology Today: June 2, 2022; pg 8.
2)
Bearden. D. Neurology Today: June 2, 2022; pg 8.
Lance Fogan, M.D. is Clinical Professor of Neurology at the David Geffen School of Medicine at UCLA. His hard-hitting emotional family medical drama, DINGS, is told from a mother’s point of view. “DINGS” is his first novel. Aside from acclamation on internet bookstore sites, U.S. Report of Books, and the Hollywood Book Review, DINGS has been advertised in a recent Publishers Weekly, New York Times Book Review and the Los Angeles Times Calendar section. DINGS teaches epilepsy and is now available in eBook, audiobook, and soft and hard cover editions.
