Diagnostic yield from 339 epilepsy patients screened on a clinical gene panel
KM Butler, C da Silva, JJ Alexander, M Hegde… - Pediatric …, 2017 - Elsevier
Background The contribution of genetic factors to epilepsy has long been recognized and
has been estimated to play a role in 70% to 80% of cases. Identification of a pathogenic
variant can help families to better cope with the disorder, allows for genetic counseling to
determine recurrence risk, and in some cases, can directly influence treatment options. In
this study, we determined the diagnostic yield of a clinical gene panel applied to an
unselected cohort of epilepsy patients. Methods Variant reports from 339 clinically referred …
has been estimated to play a role in 70% to 80% of cases. Identification of a pathogenic
variant can help families to better cope with the disorder, allows for genetic counseling to
determine recurrence risk, and in some cases, can directly influence treatment options. In
this study, we determined the diagnostic yield of a clinical gene panel applied to an
unselected cohort of epilepsy patients. Methods Variant reports from 339 clinically referred …
