A whole-exome sequencing study has identified a series of ultra-rare variants that provide a genetic link between common and rare epilepsy syndromes. This discovery could open up new possibilities for personalized treatment of common epilepsies.
Refers to Epi4K consortium & Epilepsy Phenome/Genome Project. Ultra-rare genetic variation in common epilepsies: a case-control sequencing study. Lancet Neurol.16, 135-143 (2017)