Epilepsia. Official Journal of the International League Against Epilepsy

Abstract

Variants in RORB have been reported in eight individuals with epilepsy, with phenotypes ranging from eyelid myoclonia with absence epilepsy to developmental and epileptic encephalopathies. We identified novel RORB variants in 11 affected individuals from four families. One was from whole genome sequencing and three were from RORB screening of three epilepsy cohorts: developmental and epileptic encephalopathies (n = 1021), overlap of generalized and occipital epilepsy (n = 84), and photosensitivity (n = 123). Following interviews and review of medical records, individuals’ seizure and epilepsy syndromes ...

Abstract

Objective

Seizure diaries kept by patients are unreliable. Automated electroencephalography (EEG)‐based seizure detection systems are a useful support tool to objectively detect and register seizures during long‐term video‐EEG recording. However, this standard full scalp‐EEG recording setup is of limited use outside the hospital, and a discreet, wearable device is needed for capturing seizures in the home setting. We are developing a wearable device that records EEG with behind‐the‐ear electrodes. In this study, we determined whether the recognition of ictal patterns using ...

Abstract

Objective

To look for evidence of peri‐ictal social interaction in psychogenic nonepileptic seizures (PNES) and epileptic seizures exploring the notion of PNES as a form of nonverbal communication.

Methods

Video recordings of typical seizures experienced by patients with epilepsy and PNES were obtained in a naturalistic social setting (residential epilepsy monitoring unit). Video analysis by three nonexpert clinicians identified 18 predefined semiological and interactional features indicative of apparent impairment of consciousness or of peri‐ictal responsiveness to the social environment with assessment of interrater ...

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 ...