The Rare-Epilepsy Network (REN.rti.org), funded by PCORI, was conceptualized and designed in 2014 by patient
partners, researchers and clinicians with the objective of creating the largest registry of well-characterized
individuals diagnosed with a rare epilepsy syndrome (e.g., West, Dravet, Lennox-Gastaut) or a syndrome/condition
with a genetic basis that had epilepsy as a co-occurring condition in the majority of cases (e.g., tuberous sclerosis
complex, Aicardi syndrome). The REN represents a highly collaborative network of over 25 rare epilepsy
organizations, clinicians and researchers with one mission – to increase research for this population that informs
patient care and decision making and improves quality of life.
For the rare epilepsies, the incidence and prevalence of the disorders are low and often unknown, but the conditions
are devastating, accompanied not only by hundreds to thousands of lifetime seizures but also by severe cognitive
and motor delays, co-occurrence of diseases in other body systems, and increased mortality. The impact of the rare
epilepsies on the family can be devastating. Despite the addition of new therapies for all people with epilepsy, we
have made little headway in the treatment and management of the rare epilepsies, including reducing mortality and
co-morbidity and improving quality of life. A significant gap in research for this population is related to the small
numbers of those affected with each disorder and to the difficulty in recruitment of these patients into research
studies.
Aim: To inform the epidemiology (prevalence, incidence and survival) of the individual rare epilepsies through
characterization and data analyses of the cases identified in PEDSnet. This aim will be addressed by identifying
children in the entire PEDSnet database with a SNOMED code for any epilepsy or a code for a rare epilepsy
syndrome/disorder. With these data the following research questions will be investigated:
1a. What are the prevalence, incidence and survival of each of the rare epilepsies?
1b. What is the proportion of the total rare epilepsies to the total pediatric epilepsy population?
1c. For the rare conditions that do not result in 100% epilepsy, what is the proportion of each that has epilepsy?
1d. What are the demographic, geographic distribution and treatment/outcome characteristics of the rare epilepsy
population?