By: Dr. Armantina Espinosa
Genetics is one of the six etiologic categories recognized by the International League Against Epilepsy (ILAE) classifications. The others are structural, metabolic, immune, infectious, and unknown. Etiology of epilepsy should be considered at all three levels of diagnosis: seizure type, epilepsy type, and epilepsy syndrome.
The genetic epilepsies are those epilepsy syndromes defined as having a genetic etiology. These are epilepsies resulting from a presumed genetic defect. The core syndrome is the epilepsy. A minority of patients have a known genetic pathogenic variant, however, more patients find themselves in this category as advances in molecular technologies become available and more utilized.
Many of these genetic epilepsies portend favorable seizure control, while others do not. Examples that tend to have achievable seizure control include: some of the generalized epilepsies, childhood absence epilepsy, juvenile myoclonic epilepsy, etc. Other genetic epilepsies are associated with intellectual disability and poor seizure control, such as Dravet syndrome, PCDH19 related epilepsy, Downs Syndrome, etc.
The ability to provide an accurate diagnosis for our patients with genetic epilepsies depend on our abilities to gather information across many facets and our patients ability to have access to the resources available in a timely fashion. By resources, we mean primary care, neurology, appropriate tests and evaluations including EEG, MRI, appropriate labs, epileptologist/epilepsy centers, and genetics/metabolism specialty providers.
Goals of these encounters are to clarify diagnosis, provide clarity to best treatments (pharmacologic, surgical, etc) while all along continuing to learn from our patients and families while imparting information and education, as well as support and encouragement for the best treatment of their epilepsy and comorbidities.
Critically embedded at every step of these processes is the commitment to our patients. Providers have the opportunity to gather a thorough history, listening with humanity, with individual and cultural sensitivity. A thorough evaluation, diagnosis and plan precludes building trust, and recognizing barriers our patients and their families encounter. Which include but are not limited to communication, transportation, limited ability to leave work, economic hardship, apprehension, and mental health issues.
Better, more individualized diagnosis of the patient, using the technologies now available, allows for more individualized care plans. Best seizure control and quality of life are the best rewards.
Wirrelll, E. (2021, August 17). ILAE classification of seizures and epilepsy. UpToDate. Retrieved September 25, 2022, from https://www.uptodate.com/contents/ilae-classification-of-seizures-and-epilepsy
About the author: Dr. Espinosa is a board-certified Neurologist with a specialty in Child Neurology. Her pediatric neurology fellowship was under the mentorship of Dr. Kenneth Swaiman, Child Neurology, at the University of Minnesota Medical School. She also completed her sleep medicine fellowship at HCMC under the mentorship of Dr. Mark Mahowald, MD (Minnesota Regional Sleep Disorders Center). She has been in private practice with the Minneapolis Clinic of Neurology since 1991. She joined HCMC as Pediatric Neurology Director in 2004. She is the Co-Director of the Pediatric Brain Injury Clinic and is staff at the HCMC sleep center.