Epilepsy surgery in patient with monogenic epilepsy related to SCN8A mutation

• DOI: 10.1016/j.ebr.2022.100536
• Publication Date: 2022-03-22T07:23:50Z
• Authors: Irina Podkorytova; Ryan Hays; Ghazala Perven; Sasha Alick Linds...
• Keywords: Neurophysiology and neuropsychology; Genetic testing; QP351-495; Article; 3. Good health; Stereoelectroencephalography; 03 medical and health sciences; 0302 clinical medicine; Epilepsy surgery; SCN8A mutation; Neurology. Diseases of the nervous system; RC346-429

Epilepsy surgery is superior to prolonged medical therapy in patients with drug-resistant focal epilepsy, but reports on epilepsy surgery outcomes for patients with a genetic etiology are limited, especially in adults. This is the first documented report of a stereoelectroencephalography (SEEG) evaluation and resective surgery outcome in an adult patient with epilepsy related to SCN8A mutation. We describe a patient with epilepsy related to SCN8A mutation which was reported as a variant of uncertain significance at time of his pre-surgical evaluation and reclassified as likely pathogenic about 3 years after resective epilepsy surgery. Most of his pre-surgical evaluation results suggested right temporal lobe epilepsy, but few reported semiological symptoms, ictal SPECT, and neuropsychology results were discordant, and brain MRI was non-lesional. Therefore, SEEG was recommended; ultimately, seizures were localized to the right hippocampus. He was seizure-free for 1.5 years after right anterior temporal lobectomy, then reported three focal to bilateral tonic-clonic (FBTC) seizures in the subsequent 12 months (preoperatively, 6 focal impaired awareness seizures and 4-6 FBTC per year). This case demonstrates that epilepsy surgery reduced seizure burden in a patient with SCN8A-related epilepsy granting him short-term seizure freedom after resection, and then decreased seizure frequency after relapse compared to the preoperative baseline.