Epilepsy evaluation is being transformed by genetic testing, which has shown significant diagnostic benefits for children with seizures and developmental delays. The report highlights that hundreds of genes are now linked to epilepsy, offering clinicians and families new insights into disease origins and progression, as well as improved understanding of its course.
Dr. Jacqueline French, professor of neurology at NYU Grossman School of Medicine, notes that genetic testing is particularly useful in children with seizures, especially those with developmental delay and seizures, or developmental and epileptic encephalopathy. She states that there are approximately 600 genes associated with epilepsy to some degree.
While genetic testing may not always lead to a new treatment or cure, it can provide prognostic information, guide screening for associated comorbidities, and connect families with disease-specific communities. Dr. French explains that having a genetic diagnosis can help families understand what to expect as their child develops and grows, including potential improvements or deteriorations.
In children, genetic testing can identify specific genetic mutations associated with comorbidities such as sleep disturbances, GI disturbances, or skin manifestations. Knowing what to expect allows families to be proactive and recognize potential issues earlier. Dr. French emphasizes that this information is extremely valuable for families.
Genetic Testing Benefits Families
Additionally, a genetic diagnosis can connect families with others who have the same diagnosis, providing a sense of community and support. Dr. French notes that parents of children with monogenic epilepsy often band together, creating non-profits and support networks.
As Dr. French points out, the yield from genetic testing is higher in children, particularly those with developmental delay and seizures. She notes that while there are some monogenic epilepsies with specific treatments or gene therapies, these cases are still a minority.
In adults, genetic testing is more complicated, with fewer positive genetic diagnoses. However, certain syndromes may prompt genetic testing. Dr. French notes that family history and specific clinical features can increase the likelihood of a positive genetic diagnosis.
Interpreting Adult Genetic Results
Dr. French cautions that genetic testing in adults requires careful consideration, particularly when interpreting variants of uncertain significance. She emphasizes the importance of consulting with a genetic counselor to avoid misinterpretation of results.
Dr. French also notes that many monogenic epilepsies in childhood are de novo, meaning that the parents do not have the condition and the children are unlikely to reproduce. This highlights the complexity of genetic testing in epilepsy and the need for careful evaluation and interpretation.
According to Dr. French, one of the challenges in genetic testing is the interpretation of variants of uncertain significance, which can sometimes do more harm than good if families misinterpret the results. She stresses the need for careful counseling and support to help families understand the implications of genetic testing.
Genetic testing can identify mutations such as SCN1A and SCN1B, which are associated with monogenic epilepsies like Dravet syndrome and CDKL5 deficiency disorder. Dr. French notes that these mutations can provide valuable information for families and clinicians.
Genetic testing in adults is often prompted by specific clinical features, such as auditory symptoms prior to a seizure. In some cases, genetic testing may reveal mutations, which are linked to monogenic epilepsies. However, the presence of a family history can increase the likelihood of a positive genetic diagnosis.