A new study, led by Dr. Isabel Haviland, a postdoctoral research fellow in neurology/neurobiology at Boston Children's Hospital and Harvard Medical School, reveals that genetic testing may be the key to managing and treating unexplained epilepsy in children.
The medical records of 152 children diagnosed with epilepsy were analyzed, all of which were from between 2012 and 2019. For 72% of the children who were diagnosed with epilepsy, management of their epilepsy was improved in one of four areas after genetic testing. These four areas were care coordination (48%); treatment (45%); prognosis (28%); and diagnosis (1%).
"Among the children whose treatment was affected by genetic testing: 36% had an impact on anti-seizure medication choice; 10% were eligible for gene-specific clinical trials or experimental drug use; 7% were started on a gene-specific vitamin or metabolic treatments, such as the ketogenic diet; and 3% were treated with a drug not yet approved for their type of epilepsy." (USNews)