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

Abstract:

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.

journal_name

Epilepsia

journal_title

Epilepsia

authors

Johannesen KM,Nikanorova N,Marjanovic D,Pavbro A,Larsen LHG,Rubboli G,Møller RS

doi

10.1111/epi.16533

subject

Has Abstract

pub_date

2020-06-01 00:00:00

pages

1234-1239

issue

6

eissn

0013-9580

issn

1528-1167

journal_volume

61

pub_type

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