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

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. 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. 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. Epilepsy surgery may be effective in some children with GATOR1 complex gene variants. Seizure outcomes may be compromised by extensive epileptogenic zones.

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Copyright © 2023 British Epilepsy Association. Published by Elsevier Ltd. All rights reserved.

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Declaration of Competing Interest None of the authors have any conflict of interest to declare. We affirm that: •The manuscript is being submitted only to your journal, that it will not be submitted elsewhere, while under consideration, that it has not been published elsewhere, and, should it be published in your journal, that it will not be published elsewhere. •All authors are responsible for reported research. •All authors have participated in the concept and design, analysis and interpretation of data, and drafting or revising of the manuscript, and that they have approved the manuscript as submitted. •The manuscript has not been posted on any preprint server.