Management of Ring Chromosome 20 Syndrome: Clinical Consensus and Treatment Recommendations
Ring chromosome 20 is a rare genetic disorder causing developmental and epileptic encephalopathy, characterized by drug-resistant seizures that significantly impact quality of life. A taskforce of epilepsy specialists and caregivers reviewed available literature and provided consensus recommendations for multidisciplinary management, including genetic counseling, acknowledgment of treatment resistance, and monitoring for non-convulsive status epilepticus.