Homa Tajsharghi, Professor of Biomedicine at the School of Health Sciences at University of Skövde is focusing on rare diseases & neurogenic disorders in her latest publication in the High-Impact Journal BRAIN.
Developmental and epileptic encephalopathies are a heterogeneous group of early-onset epilepsy syndromes dramatically impairing neurodevelopment. Modern genomic technologies have revealed the underlying genetic cause of this disease and opened the door to therapeutic hopes.
This research study has been performed on eleven patients with epileptic spasms or myoclonic seizures at the first two months of life. The study is part of a large international collaboration with many genetic centers from, among others, the EuroEpinomics-RES consortium AR working group.