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

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

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...

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Bibliographic Details
Published in:Epilepsia (Copenhagen) Vol. 61; no. 6; pp. 1234 - 1239
Main Authors: Johannesen, Katrine M., Nikanorova, Natalya, Marjanovic, Dragan, Pavbro, Agnieszka, Larsen, Line H. G., Rubboli, Guido, Møller, Rikke S.
Format: Journal Article
Language:English
Published: United States Wiley Subscription Services, Inc 01-06-2020
Subjects:
Adolescent
Adult
Adults
Aged
Aged, 80 and over
Clinical Decision-Making - methods
Cognition
Convulsions & seizures
Decision making
Denmark - epidemiology
Diagnosis
Epilepsy
Epilepsy - diagnosis
Epilepsy - epidemiology
Epilepsy - genetics
Female
gene panel
Genetic screening
Genetic testing
Genetic Testing - methods
Humans
Intellectual disabilities
Male
Medical records
Middle Aged
NAV1.1 Voltage-Gated Sodium Channel - genetics
Nerve Tissue Proteins - genetics
NGS
Patients
Potassium Channels, Sodium-Activated - genetics
Quality of life
Seizures
Sodium channels (voltage-gated)
Young Adult
Denmark
NGS
genetic testing
adults
gene panel
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Summary: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.
Bibliography:ObjectType-Case Study-2
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ISSN:0013-9580
1528-1167
DOI:10.1111/epi.16533