TY - JOUR T1 - Pearls & Oy-sters: Harnessing New Diagnostic and Therapeutic Approaches to Treat a Patient With Genetic Drug-Resistant Focal Epilepsy JF - Neurology JO - Neurology SP - 1020 LP - 1024 DO - 10.1212/WNL.0000000000206900 VL - 100 IS - 21 AU - Aafreen Khan AU - Erik H. Middlebrooks AU - Pradeep Javarayee AU - William O. Tatum AU - Sofia S. Sanchez Bolurate AU - Sanjeet S. Grewal AU - Anteneh M. Feyissa Y1 - 2023/05/23 UR - //www.ez-admanager.com/content/100/21/1020.abstract N2 - Focal cortical dysplasia (FCD) is a congenital developmental malformation and is one of the leading causes of drug-resistant focal epilepsy (DRFE). Although focal epilepsies traditionally have been regarded as acquired disorders, increasing evidence suggests a substantial genetic contribution to the pathogenesis of focal structural epilepsies, including FCDs. Variations in the Dishevelled, Egl-10, and domain-containing protein 5 (DEPDC5) have recently emerged as a causative gene mutation in familial focal epilepsies associated with FCD type 2a, including bottom-of-sulcus dysplasia (BOSD). We present the case of a 20-year-old man with DRFE, positive for DEPDC5 c.1555C>T (p.GIn519*) heterozygous pathogenic variant. Initial 3T brain MRI was unrevealing, but subsequent 7T MRI including 7T edge-enhancing gradient echo revealed a left superior frontal sulcus BOSD concordant with the electroclinical data. The patient underwent treatment with MR-guided laser interstitial thermal ablation of the left frontal BOSD without intracranial EEG monitoring (skipped candidate), resulting in a seizure-free outcome of 9 months since the last follow-up. Our case highlights the real-world application of summative information obtained through advancements in epilepsy genetic testing, minimally invasive surgeries, and ultra-high field MRI, allowing us to provide a safe and effective treatment for a patient with a genetic DRFE.ASM=antiseizure medication; BOSD=bottom-of-sulcus dysplasia; DRE=drug-resistant epilepsy; DRFE=drug-resistant focal epilepsy; EDGE=edge-enhancing gradient echo; FCD=focal cortical dysplasia; MRLiTT=MRI-guided laser interstitial thermal ablation therapy ER -