Course : Bedside to Bench and Back: Translational Medicine in Epilepsy Genetics

Held during the 2017 ACMG Annual Clinical Genetics Meeting in Phoenix, Arizona.  Click “Launch” for more information.



The epilepsies are among the most common neurological conditions, affecting approximately 1% of the general population and are most common in childhood, affecting approximately 70 out of 100,000 children under the age of two years. Seizures are commonly encountered in the genetics clinic, as they are a common comorbidity of many known Mendelian disorders and many epilepsy syndromes have a strong genetic component. Recent data show that de novo alterations play an important role particularly in the early-onset epileptic encephalopathies.
Treatment for the epilepsies may be directed by seizure type, and many patients try multiple medications until they find one, or a combination of several, that help control seizures. In one of out every three people with epilepsy, seizures remain uncontrolled despite multiple medications. In some patients, the identification of the underlying molecular etiology can have therapeutic implications, leading to more targeted therapies. Recent technological advances in gene sequencing have led to a rapid increase in genes leading to epilepsies, particularly severe epilepsies of childhood. However, despite the success in gene discovery, the ability to provide targeted therapies has not paralleled this influx. The field of epilepsy genetics has now shifted efforts from focusing solely on gene discovery to investigating the mechanisms of seizure susceptibility and identifying targeted therapies in the laboratory that can be translated back to the clinic. In this session, we will present a translational approach to the diagnosis, providing examples of how gene discovery in the epilepsies has led to a better understanding of the underlying mechanisms, forming a basis for precision medicine.
During this session, we will have four speakers covering topics of translational epilepsy genetics. The first speaker will provide a comprehensive clinical overview of the genetic epilepsy syndromes, including important features relevant to the pediatric genetics clinic. The second speaker will discuss current available testing options for patients with epilepsy, including next generation panel testing and whole exome sequencing, the clinical utility and diagnostic yield, and challenges in variant interpretation in the context of the epilepsies. The third speaker will discuss current translational studies and clinical trials harnessing genetic diagnoses to forge a path for precision medicine. This talk will cover many of the ongoing clinical trials for genetic epilepsies and outline the overall framework for future drug development. The fourth speaker will discuss functional analysis of identified genetic variants and screening of potential antiepileptic medications in zebrafish models of genetic epilepsies. This talk aims to present the spectrum of screening model systems for genetic epilepsies and will demonstrate how pathogenic variants identified in patients can be used for compound screening, allowing for rapid discovery of new compounds targeted at specific genetic epilepsies.


All healthcare professionals interested in the diagnosis, management, treatment and prevention of genetic conditions and increasing their understanding of the genetic basis of common, chronic health problems affecting both children and adults will find the programming applicable to their practice. These select sessions from the ACMG Annual Meeting are targeted for the following professionals:

• Medical and clinical geneticists
• Physicians of all specialties with an interest in genetics, genomics and the genetic basis of disease
• Genetic counselors
• Laboratory geneticists, directors, technicians and technologists
• Researchers
• Pathologists
• Educators
• Nurses
• Dietitians
• Physician assistants
• Biotechnology and pharmaceutical development professionals
• Fellows, Trainees and Students
• Public health professionals
• Genetic/consumer advocates
• Others with an interest in the science and art of medical genetics and genomics

Course Information without Educational Credit Please Click Here

Registration and Fees

Course only – No educational credits
ACMG Members and ACMG Trainees: ($20)
Non-members ($30)


At the conclusion of this course, participants should be able to:

1. Identify current gaps in knowledge that make obtaining a definitive genetic diagnosis in epilepsy particularly challenging
2. Outline efforts to provide functional analysis for variants in genes associated with epilepsy as well as efforts for drug-screening in animal models
3. Describe how findings have translated back to the clinic to inform patient care and how such efforts need to be expanded
4. Describe ongoing collaborative efforts in clinical research relevant for patients with seizure disorders

Purchase without Educational Credits