| Autor: |
Shanna M. Swartwood, Ana Morales, Kathryn E. Hatchell, Chad Moretz, Dianalee McKnight, Laurie Demmer, Sarah Chagnon, Swaroop Aradhya, Edward D. Esplin, Joshua L. Bonkowsky |
| Jazyk: |
angličtina |
| Rok vydání: |
2024 |
| Předmět: |
|
| Zdroj: |
Epilepsia Open, Vol 9, Iss 1, Pp 439-444 (2024) |
| Druh dokumentu: |
article |
| ISSN: |
2470-9239 |
| DOI: |
10.1002/epi4.12878 |
| Popis: |
Abstract The identification of numerous genetically based epilepsies has resulted in the widespread use of genetic testing to inform epilepsy etiology. Our study aims to investigate whether a difference exists in the diagnostic evaluation and healthcare‐related cost expenditures of pediatric patients with epilepsy of unknown etiology who receive a genetic diagnosis through multigene epilepsy panel (MEP) testing and comparing those who underwent early (EGT) versus late genetic testing (LGT). Testing was defined as early (less than 1 year), or late (more than 1 year), following clinical epilepsy diagnosis. A retrospective chart review of pediatric individuals (1–17 years) with epilepsy of unknown etiology who underwent multigene epilepsy panel (MEP) testing identified 28 of 226 (12%) individuals with a pathogenic epilepsy variant [EGT n = 8 (29%); LGT n = 20 (71%)]. The average time from clinical epilepsy diagnosis to genetic diagnosis was 0.25 years (EGT), compared with 7.1 years (LGT). The EGT cohort underwent fewer metabolic tests [EGT n = 0 (0%); LGT n = 16 (80%) (P |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
|
Plný text