Epilepsia. Official Journal of the International League Against Epilepsy

Abstract

Objective

Drug resistance is a major concern in the treatment of individuals with epilepsy. No genetic markers for resistance to individual antiseizure medication (ASM) have yet been identified. We aimed to identify the role of rare genetic variants in drug resistance for three common ASMs: levetiracetam (LEV), lamotrigine (LTG), and valproic acid (VPA).

Methods

A cohort of 1622 individuals of European descent with epilepsy was deeply phenotyped and underwent whole exome sequencing (WES), comprising 575 taking LEV, 826 LTG, and 782 VPA. We ...

Abstract

Objective

To determine risk factors and causes for mortality during childhood in patients with infantile spasms (IS). We describe the overall goals of care for those who died.

Methods

This is a retrospective chart review of IS patients born between 2000 and 2011. We examined potential risk factors for mortality, including etiology, neurologic impairment, medication use, persistence of epileptic spasms, and comorbid systemic involvement (requirement for G‐tube feedings, respiratory interventions). For patients who died, we describe cause of death and resuscitation status or ...

Abstract

Objective

Previous studies of frontal lobe epilepsy (FLE) have documented different impairments of theory of mind (ToM), while the study of frontal lobe (FL) lesion without seizures has produced inconsistent results. Given the role played by the FLs in ToM, we evaluated this and other functions in patients with FLE with and without FL lesions. The main objective was to clarify the salience of ToM impairment in the cognitive pattern of FLE and its capacity to discriminate these patients from healthy ...

Abstract

Objective

Genetic variants in STXBP1, which encodes the conserved exocytosis protein Munc18‐1, are associated with a variety of infantile epilepsy syndromes. We aimed to develop an in vivo Caenorhabditis elegans model that could be used to test the pathogenicity of such variants in a cost‐effective manner.

Methods

The CRISPR/Cas9 method was used to introduce a null mutation into the unc‐18 gene (the C. elegans orthologue of STXBP1), thereby creating a paralyzed worm strain. We subsequently rescued this strain with transgenes encoding the human ...

Abstract

Objective

Individuals with epilepsy have poor bone development and preservation throughout the lifespan and are vulnerable to nontrauma fracture (NTFx) and post‐NTFx complications. However, no studies have examined the contribution of NTFx to mortality among adults with epilepsy. The objective was to determine whether NTFx is a risk factor for mortality among adults with epilepsy.

Methods

Data from 2011 to 2016 were obtained from Optum Clinformatics Data Mart, a nationwide claims database from a single private payer in the United States. Diagnosis codes ...

Abstract

Objective

Humans use a complex system of protective cognitive biases or “positive illusions” that foster emotional well‐being and subjective quality of life. This study examined the role of positive illusions in patient adjustment to drug‐resistant epilepsy and its surgical treatment.

Methods

One hundred fifty people participated, including 93 focal epilepsy patients being evaluated for surgery and 57 sociodemographically matched healthy controls. We purpose‐built computer software, “Living With Epilepsy,” to assess the impact of positive illusions on patient perceptions of their current life, and ...

Abstract

Objective

To analyze longitudinal seizure outcomes following epilepsy surgery, including reoperations, in patients with intractable focal epilepsy.

Methods

Clinicoradiological characteristics of patients who underwent epilepsy surgery from 1995 to 2016 with follow‐up of ≥1 year were reviewed. In patients undergoing reoperations, the latest resection was considered the index surgery. The primary outcome was complete seizure freedom (Engel I) at last follow‐up. Potentially significant outcome variables were first identified using univariate analyses and then fit in multivariate Cox proportional hazards models.

Results

Of 898 patients fulfilling study ...