Epilepsia. Official Journal of the International League Against Epilepsy

Summary

Objective

Onset of epilepsy before 2 years of age is associated with poor cognitive outcome; however, the natural course of the range of epilepsies that occur at this age is unknown. The aim of this prospective community‐based study was to investigate the neuropsychological development of infants with newly diagnosed epilepsy longitudinally and to identify the clinical factors that predict long‐term impairment.

Methods

Sixty‐six infants <24 months of age were enrolled in the baseline phase of this study; 40 were seen again at 1‐year follow‐up and ...

Summary

Objective

This retrospective study was designed to assess the impact of corpus callosotomy (CC) in patients with intractable West syndrome (WS) without lesions on magnetic resonance imaging (MRI).

Methods

This study involved 56 patients with WS who underwent CC between January 2000 and December 2014. Seizure outcomes and changes in psychomotor development were analyzed.

Results

Mean age at the onset of epilepsy and at the time of CC was 5.1 and 22.6 months, respectively. Mean duration of epilepsy before CC was 17.6 months. Video‐electroencephalography (EEG) monitoring showed ...

Summary

Objective

The majority of the 65 million people worldwide with epilepsy live in low‐ and middle‐income countries. Many of these countries have inadequate resources to serve the large patient population affected by epilepsy. Panama is a middle‐income country that currently has only 2 facilities that can provide basic epilepsy services and no epilepsy surgery services. To address this need, a group of Panamanian physicians partnered with U.S. epilepsy health care providers to test a hybrid epilepsy surgery program, combining resources and ...

Summary

Objective

After the failure of the first antiepileptic drug (AED) at doses > 50% defined daily dose (DDD), there are three options for patients with epilepsy: combination therapy, alternative therapy, and increased dosage of the first AED. However, present studies have not provided evidence for which option is best. Therefore, we conducted this retrospective observational cohort study to compare the effects of three treatment schedules.

Methods

Patients diagnosed with newly diagnosed epilepsy at the epilepsy clinic of West China Hospital between August 2006 ...

Summary

Objectives

Developmental encephalopathic epilepsies (DEEs) are characterized by refractory seizures, disability, and early death. Opportunities to improve care and outcomes focus on West syndrome/infantile spasms (WS/IS). Lennox‐Gastaut syndrome (LGS) is almost as common but receives little attention. We examined initial presentations of DEEs and their evolution over time to identify risk and indicators of developing LGS.

Methods

Data are from the Connecticut Study of Epilepsy, a prospective, longitudinal study of 613 children with newly diagnosed epilepsy recruited in 1993‐1997. Central review of medical ...

Summary

Objective

To determine when spontaneous granule cell epileptiform discharges first occur after hippocampal injury, and to identify the postinjury “latent” period as either a “silent” gestational state of epileptogenesis or a subtle epileptic state in gradual transition to a more obvious epileptic state.

Methods

Nonconvulsive status epilepticus evoked by perforant path stimulation in urethane‐sedated rats produced selective and extensive hippocampal injury and a “latent” period that preceded the onset of the first clinically obvious epileptic seizures. Continuous granule cell layer depth recording and ...

Summary

Objective

Dravet syndrome is a rare neurodevelopmental disease, characterized by general cognitive impairment and severe refractory seizures. The majority of patients carry the gene mutation SCN1A, leading to a defective sodium channel that contributes to pathogenic brain excitability. A γ‐aminobutyric acid (GABAergic) impairment, as in other neurodevelopmental diseases, has been proposed as an additional mechanism, suggesting that seizures could be alleviated by GABAergic therapies. However, up to now the physiological mechanisms underlying the GABAergic dysfunction in Dravet syndrome are still unknown ...

Summary

Objective

In humans, mutations of the γ‐aminobutyric acid receptor subunit 1 (GABRA1) cause either mild or severe generalized epilepsy. Although these epilepsy‐causing mutations have been shown to disrupt the receptor activity in vitro, their in vivo consequences on brain development and activity are not known. Here, we aim at unraveling the epileptogenesis mechanisms of GABRA1 loss of function.

Methods

We generated a gabra1
^−/−
zebrafish mutant line displaying highly penetrant epileptic seizures. We sought to identify ...

Summary

Objective

Increasing availability of surgically resected brain tissue from patients with focal epilepsy and focal cortical dysplasia or low‐grade glioneuronal tumors has fostered large‐scale genetic examination. However, assessment of pathogenicity of germ line and somatic variants remains difficult. Here, we present a state‐of‐the‐art evaluation of reported genes and variants associated with epileptic brain lesions.

Methods

We critically reevaluated the pathogenicity for all neuropathology‐associated variants reported to date in the PubMed and ClinVar databases, including 101 neuropathology‐associated missense variants encompassing 11 disease‐related genes. We ...

Epilepsia, Volume 59, Issue S2, Page 67-69, October 2018.