Epilepsy surgery outcomes in patients with GATOR1 gene complex variants: Report of new cases and review of literature

Ahmed N. Sahly, Robyn Whitney, Gregory Costain, Vann Chau, Hiroshi Otsubo, Ayako Ochi, Elizabeth J. Donner, Jessie Cunningham, Kevin C. Jones, Elysa Widjaja, George M. Ibrahim, Puneet Jain*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

10 Scopus citations

Abstract

Aim: To report seizure outcomes in children with GATOR1 gene complex disorders who underwent epilepsy surgery and perform a systematic literature search to study the available evidence. Methods: The records of children with pathogenic/likely pathogenic variants in GATOR1 gene complex who underwent epilepsy surgery were reviewed. Clinical, radiological, neurophysiological, and histological data were extracted/summarized. The systematic review included all case series/reports and observational studies reporting on children or adults with genetic (germline or somatic) variants in the GATOR1 complex genes (DEPDC5, NPRL2, NPRL3) with focal epilepsy with/without focal cortical dysplasia who underwent epilepsy surgery; seizure outcomes were analyzed. Results: Eight children with pathogenic/likely pathogenic variants in GATOR1 complex genes were included. All had drug-resistant epilepsy. Six children had significant neurodevelopmental delay. Epilepsy surgery was performed in all; clinical seizure freedom was noted in 4 children (50%). Systematic literature search identified 17 eligible articles; additional 30 cases with patient-level data were studied. Lesional MRI brain was seen in 80% cases. The pooled rate of seizure freedom following surgery was 60%; FCD IIa was the most encountered pathology. Interpretation: Epilepsy surgery may be effective in some children with GATOR1 complex gene variants. Seizure outcomes may be compromised by extensive epileptogenic zones.

Original languageEnglish (US)
Pages (from-to)13-20
Number of pages8
JournalSeizure
Volume107
DOIs
StatePublished - Apr 2023

Keywords

  • BOSD
  • GATOR1, mTORopathy, FCD
  • SEEG
  • Sleep-related hypermotor epilepsy

ASJC Scopus subject areas

  • Clinical Neurology
  • Neurology

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