Pearls & Oy-sters: Harnessing New Diagnostic and Therapeutic Approaches to Treat a Patient With Genetic Drug-Resistant Focal Epilepsy. Neurology 2023 May 23;100(21):1020-1024
Date
01/26/2023Pubmed ID
36697241Pubmed Central ID
PMC10238152DOI
10.1212/WNL.0000000000206900Scopus ID
2-s2.0-85159778381 (requires institutional sign-in at Scopus site) 3 CitationsAbstract
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.
Author List
Khan A, Middlebrooks EH, Javarayee P, Tatum WO, Sanchez Bolurate SS, Grewal SS, Feyissa AMAuthor
Pradeep Javarayee MD Assistant Professor in the Neurology department at Medical College of WisconsinMESH terms used to index this publication - Major topics in bold
AdultBrain
Drug Resistant Epilepsy
Electrocorticography
Epilepsies, Partial
Humans
Magnetic Resonance Imaging
Male
Malformations of Cortical Development
Young Adult