Epilepsia. Official Journal of the International League Against Epilepsy

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 ...

Abstract

Objective

To determine the underlying etiologies in a contemporary cohort of infants with infantile spasms and to examine response to treatment.

Methods

Identification of the underlying etiology and response to treatment in 377 infants enrolled in a clinical trial of the treatment of infantile spasms between 2007 and 2014 using a systematic review of history, examination, and investigations. They were classified using the pediatric adaptation of International Classification of Diseases, Tenth Revision (ICD‐10).

Results

A total of 219 of 377 (58%) had a proven etiology, ...

Abstract

Objective

The potential impact of epilepsy on sexual function is important for patient welfare, but often neglected. This study explored the occurrences of different sexual problems in patients with both well‐controlled and mostly refractory epilepsy, and compared these with equivalent information from the general population.

Methods

Between 2015 and 2017, a total of 221 adult inpatients and outpatients, mostly with intractable epilepsy, at the National Centre for Epilepsy in Norway, and 78 outpatients with well‐controlled epilepsy at Lillehammer hospital participated in a questionnaire ...

Abstract

Surgical management of medically intractable epilepsy was historically based on the premise of excising the presumed substrate of disease, that is, “the epileptogenic zone.” There was early interest in establishing the extent of resection of the temporal lobe that optimized postoperative reduction in seizure burden while preserving neurocognitive function. Studies approaching this question used varied methods of defining and measuring “extent,” complicating the task of distilling evidence‐based recommendations for surgical practice. A palpable shift in the paradigm of surgical epilepsy ...