Epilepsia. Official Journal of the International League Against Epilepsy

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.

Epilepsia, Volume 59, Issue S2, Page 198-206, October 2018.

Epilepsia, Volume 59, Issue S2, Page 216-219, October 2018.

Epilepsia, Volume 59, Issue S2, Page 78-81, October 2018.

Epilepsia, Volume 59, Issue S2, Page 135-139, October 2018.

Epilepsia, Volume 59, Issue S2, Page 70-77, October 2018.