The implementation of whole exome sequencing (WES) has had a major impact on the
diagnostic yield of genetic testing in individuals with epilepsy. The identification of a genetic …

Objective The term 'precision medicine'describes a rational treatment strategy tailored to one
person that reverses or modifies the disease pathophysiology. In epilepsy, single case and …

Introduction: Epileptic disorders are a heterogeneous group of medical conditions with
epilepsy as the common denominator. Genetic causes, electro-clinical features, and …

The clinical utility of genetic testing for epilepsy has been enhanced with the advancement
of next-generation sequencing (NGS) technology along with the rapid updating of publicly …

Despite recent advances in both the understanding and treatment of the epilepsies, the rate
of refractory epilepsy has remained static for many years. However, given our greater …

Identifying the optimal treatment based on specific characteristics of each patient is the main
promise of precision medicine. In the field of epilepsy, the identification of more than 100 …

Objective Identify the predictive variables of genetic pathogenic results and the impact of test
results on epilepsy diagnosis and management. Methods Analytical observational design …

Objective Driven by advances in genomic technology and reduction in costs, next-
generation sequencing (NGS) is venturing into routine clinical care. The 'real-world'clinical …

Objective Exome sequencing (ES) has played an important role in the identification of
causative variants for individuals with epilepsy and has proven to be a valuable diagnostic …

Background Evidence of the impact of genetic diagnosis on medical management in
individuals with previously unexplained epilepsy is lacking in the literature. Our goal was to …