{Reference Type}: Review
{Title}: Epilepsy surgery outcomes in patients with GATOR1 gene complex variants: Report of new cases and review of literature.
{Author}: Sahly AN;Whitney R;Costain G;Chau V;Otsubo H;Ochi A;Donner EJ;Cunningham J;Jones KC;Widjaja E;Ibrahim GM;Jain P;
{Journal}: Seizure
{Volume}: 107
{Issue}: 0
{Year}: Apr 2023 12
{Factor}: 3.414
{DOI}: 10.1016/j.seizure.2023.03.004
{Abstract}: OBJECTIVE: 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.
CONCLUSIONS: Epilepsy surgery may be effective in some children with GATOR1 complex gene variants. Seizure outcomes may be compromised by extensive epileptogenic zones.