Value of genetic testing for pediatric epilepsy: Driving earlier diagnosis of ceroid lipofuscinosis type 2 Batten disease

Epilepsia. 2022 Jul;63(7):e68-e73. doi: 10.1111/epi.17269. Epub 2022 May 10.


This study assessed the effectiveness of genetic testing in shortening the time to diagnosis of late infantile neuronal ceroid lipofuscinosis type 2 (CLN2) disease. Individuals who received epilepsy gene panel testing through Behind the Seizure® , a sponsored genetic testing program (Cohort A), were compared to children outside of the sponsored testing program during the same period (Cohort B). Two cohorts were analyzed: children aged ≥24 to ≤60 months with unprovoked seizure onset at ≥24 months between December 2016 and January 2020 (Cohort 1) and children aged 0 to ≤60 months at time of testing with unprovoked seizure onset at any age between February 2019 and January 2020 (Cohort 2). The diagnostic yield in Cohort 1A (n = 1814) was 8.4% (n = 153). The TPP1 diagnostic yield within Cohort 1A was 2.9-fold higher compared to Cohort 1B (1.0%, n = 18/1814 vs. .35%, n = 8/2303; p = .0157). The average time from first symptom to CLN2 disease diagnosis was significantly shorter than previously reported (9.8 vs. 22.7 months, p < .001). These findings indicate that facilitated access to early epilepsy gene panel testing helps to increase diagnostic yield for CLN2 disease and shortens the time to diagnosis, enabling earlier intervention.

Keywords: Batten disease; developmental delay; enzyme replacement therapy; genetic epilepsy; genetic testing; neuronal ceroid lipofuscinosis.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aminopeptidases / genetics
  • Child
  • Dipeptidyl-Peptidases and Tripeptidyl-Peptidases / genetics
  • Epilepsy* / diagnosis
  • Epilepsy* / genetics
  • Genetic Testing
  • Humans
  • Neuronal Ceroid-Lipofuscinoses* / diagnosis
  • Neuronal Ceroid-Lipofuscinoses* / genetics
  • Seizures / genetics
  • Serine Proteases / genetics
  • Tripeptidyl-Peptidase 1


  • Tripeptidyl-Peptidase 1
  • Serine Proteases
  • Aminopeptidases
  • Dipeptidyl-Peptidases and Tripeptidyl-Peptidases