%0 Review
%T Epilepsy surgery outcomes in patients with GATOR1 gene complex variants: Report of new cases and review of literature.
%A Sahly AN
%A Whitney R
%A Costain G
%A Chau V
%A Otsubo H
%A Ochi A
%A Donner EJ
%A Cunningham J
%A Jones KC
%A Widjaja E
%A Ibrahim GM
%A Jain P
%J Seizure
%V 107
%N 0
%D Apr 2023 12
%M 36931189
%F 3.414
%R 10.1016/j.seizure.2023.03.004
%X <B>OBJECTIVE: </B>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.<BR><B>METHODS: </B>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.<BR><B>RESULTS: </B>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.<BR><B>CONCLUSIONS: </B>Epilepsy surgery may be effective in some children with GATOR1 complex gene variants. Seizure outcomes may be compromised by extensive epileptogenic zones.