At the CNS 2021 annual meeting, Dr Christopher Yuskaitis from Harvard Medical School, Boston, Massachusetts, USA, discussed recent advancements in the genetics of epilepsy, with an emphasis on future requirements for identification, grouping, and treatment of patients with epilepsy.
For identification of epilepsy, Dr Yuskaitis reviewed genetic testing using whole-exome sequencing (WES), an epilepsy gene panel, chromosomal microarray (CMA), karyotyping, and mitochondrial DNA testing. Diagnostic yields are 33-57% for WES, and 18-29% for the epilepsy gene panel, he said.