Epilepsia. Official Journal of the International League Against Epilepsy

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.

Epilepsia, Volume 59, Issue S2, Page 193-197, October 2018.

Epilepsia, Volume 59, Issue S2, Page 182-187, October 2018.