Summary, originally published on medicalxpress.com
An international team of scientists have created a language to improve epilepsy research and diagnosis.
Researchers at Newcastle University have led an international team of epilepsy experts to redefine the language used to describe seizures in a tool used to diagnose patients with genetic diseases.
The Human Phenotype Ontology (HPO) is a freely available map of human symptoms used widely by medical and research teams around the world. Its most important function is to select and interpret genetic tests. Identifying a genetic cause in epilepsy can help doctors to select which treatments to recommend and which to avoid.
The team led from Newcastle University, Newcastle Upon Tyne Hospitals NHS Foundation Trust and Children’s Hospital of Philadelphia (Pennsylvania) redesigned the concepts of seizures in the HPO, using the latest expert opinions from the International League Against Epilepsy.
The new map consists of five times as many concepts by which a seizure can be described. When the research team used the new HPO to describe the seizures of 791 people with epilepsy, combining data from different studies, it provided nearly 40% more information than the previous version.