Utility of genetic testing for therapeutic decision-making in adults with epilepsy

Katrine M. Johannesen*, Natalya Nikanorova, Dragan Marjanovic, Agnieszka Pavbro, Line H.G. Larsen, Guido Rubboli, Rikke S. Møller

*Kontaktforfatter for dette arbejde

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

Abstrakt

Objective: Genetic testing has become a routine part of the diagnostic workup in children with early onset epilepsies. In the present study, we sought to investigate a cohort of adult patients with epilepsy, to determinate the diagnostic yield and explore the gain of personalized treatment approaches in adult patients. Methods: Two hundred patients (age span = 18-80 years) referred for diagnostic gene panel testing at the Danish Epilepsy Center were included. The vast majority (91%) suffered from comorbid intellectual disability. The medical records of genetically diagnosed patients were mined for data on epilepsy syndrome, cognition, treatment changes, and seizure outcome following the genetic diagnosis. Results: We found a genetic diagnosis in 46 of 200 (23%) patients. SCN1A, KCNT1, and STXBP1 accounted for the greatest number of positive findings (48%). More rare genetic findings included SLC2A1, ATP6A1V, HNRNPU, MEF2C, and IRF2BPL. Gene-specific treatment changes were initiated in 11 of 46 (17%) patients (one with SLC2A1, 10 with SCN1A) following the genetic diagnosis. Ten patients improved, with seizure reduction and/or increased alertness and general well-being. Significance: With this study, we show that routine diagnostic testing is highly relevant in adults with epilepsy. The diagnostic yield is similar to previously reported pediatric cohorts, and the genetic findings can be useful for therapeutic decision-making, which may lead to better seizure control, ultimately improving quality of life.

OriginalsprogEngelsk
TidsskriftEpilepsia
Vol/bind61
Udgave nummer6
Sider (fra-til)1234-1239
ISSN0013-9580
DOI
StatusUdgivet - jun. 2020

Fingeraftryk Dyk ned i forskningsemnerne om 'Utility of genetic testing for therapeutic decision-making in adults with epilepsy'. Sammen danner de et unikt fingeraftryk.

Citationsformater