Incorporating epilepsy genetics into clinical practice: a 360°evaluation

摘要

We evaluated a new epilepsy genetic diagnostic and counseling service covering a UK population of 3.5 million. We calculated diagnostic yield, estimated clinical impact, and surveyed referring clinicians and families. We costed alternative investigational pathways for neonatal onset epilepsy. Patients with epilepsy of unknown aetiology onset??2 years, with turnaround time of 21 days. Pathogenic variants were seen in SCN8A, SCN2A, SCN1A, KCNQ2 , HNRNPU, GRIN2A , SYNGAP1, STXBP1, STX1B, CDKL5, CHRNA4, PCDH19 and PIGT . Clinician prediction was poor. Clinicians and families rated the service highly. In neonates, the cost of investigations could be reduced from ￡9362 to ￡2838 by performing gene panel earlier and the median diagnostic delay of 3.43 years reduced to 21 days. Panel testing for epilepsy has a high yield among children with onset?