Ring 20 syndrome: A call to action.

The article discusses the need for genetic testing in children and adults with unexplained epilepsies in order to improve diagnosis rates. It highlights the limitations of next-generation sequencing (NGS) methods and emphasizes the importance of considering specific disorders, such as ring 20 syndrome (r(20)), which cannot be diagnosed through NGS and require karyotype analysis. The article provides information on the common profile and characteristics of r(20) patients, as well as the potential cognitive and behavioral impairments associated with the syndrome. The authors recommend ordering karyotyping for patients with intractable childhood-onset seizures when NGS analysis is inconclusive, in order to provide an accurate and timely diagnosis. [Extracted from the article]