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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

01/26/2023

Pubmed ID

36697241

Pubmed Central ID

PMC10238152

DOI

10.1212/WNL.0000000000206900

Scopus ID

2-s2.0-85159778381 (requires institutional sign-in at Scopus site)   2 Citations

Abstract

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 AM

Author

Pradeep Javarayee MD Assistant Professor in the Neurology department at Medical College of Wisconsin




MESH terms used to index this publication - Major topics in bold

Adult
Brain
Drug Resistant Epilepsy
Electrocorticography
Epilepsies, Partial
Humans
Magnetic Resonance Imaging
Male
Malformations of Cortical Development
Young Adult