Epilepsia. Official Journal of the International League Against Epilepsy

Abstract

Objective

It has been suggested that multilobar epilepsies caused by lesions restricted to the posterior cerebral quadrant (ie, the parietal, temporal, and occipital lobes) can be treated successfully by a procedure termed posterior disconnection. The objective of the present paper was to identify determinants of the epileptological outcome following posterior disconnection surgery.

Methods

The authors retrospectively analyzed a series of 29 consecutive patients undergoing posterior disconnection surgery between 2005 and 2017 for the treatment of refractory posterior quadrantic epilepsy. Specifically, all presurgical and ...

Abstract

Objective

Developmental epileptic encephalopathies (DEEs) are genetically heterogeneous severe childhood‐onset epilepsies with developmental delay or cognitive deficits. In this study, we explored the pathogenic mechanisms of DEE‐associated de novo mutations in the CACNA1A gene.

Methods

We studied the functional impact of four de novo DEE‐associated CACNA1A mutations, including the previously described p.A713T variant and three novel variants (p.V1396M, p.G230V, and p.I1357S). Mutant cDNAs were expressed in HEK293 cells, and whole‐cell voltage‐clamp recordings were conducted to test the impacts on Ca_V2.1 channel function. Channel ...

Abstract

Racial disparities in the utilization of epilepsy surgery are well documented, but it is unknown whether a natural language processing (NLP) algorithm trained on physician notes would produce biased recommendations for epilepsy presurgical evaluations. To assess this, an NLP algorithm was trained to identify potential surgical candidates using 1097 notes from 175 epilepsy patients with a history of resective epilepsy surgery and 268 patients who achieved seizure freedom without surgery (total N = 443 patients). The model was tested on 8340 notes ...

Summary

Objective

To examine the preliminary feasibility and acceptability of a Web‐based program, Epilepsy Journey, to improve executive function behaviors in adolescents with epilepsy.

Methods

We conducted a proof of concept single‐arm pilot trial of Epilepsy Journey with 31 adolescents (average age = 15.3 ± 1.3 years) who had an epilepsy diagnosis and executive function (EF) deficits on the caregiver‐report version of the Behavior Rating Inventory of Executive Function (BRIEF). Epilepsy Journey coupled a gamified problem‐solving website comprised of 10 learning modules targeting EF deficits ...

Abstract

Objective

Invasive monitoring is sometimes necessary to guide resective surgery in epilepsy patients, but the ideal method is unknown. In this systematic review, we assess the association of postresection seizure freedom and adverse events in stereoelectroencephalography (SEEG) and subdural electrodes (SDE).

Methods

We searched three electronic databases (MEDLINE, Embase, and CENTRAL [Cochrane Central Register of Controlled Trials]) from their inception to January 2018 with the keywords “electroencephalography,” “intracranial grid,” and “epilepsy.” Studies that presented primary quantitative patient data for postresection seizure freedom with ...

Abstract

Objective

Pathogenic variants of KCNQ2, which encode a potassium channel subunit, cause either benign (familial) neonatal epilepsy—B(F)NE)—or KCNQ2 encephalopathy (KCNQ2 DEE). We examined the characteristics of KCNQ2 variants.

Methods

KCNQ2 pathogenic variants were collected from in‐house data and two large disease databases with their clinical phenotypes. Nonpathogenic KCNQ2 variants were collected from the Genome Aggregation Database (gnomAD). Pathogenicity of all variants was reevaluated with clinical information to exclude irrelevant variants. The cumulative distribution plots of B(F)NE, KCNQ2 DEE, and gnomAD KCNQ2 variants were ...