The genetics of epilepsy

P Perucca, M Bahlo, SF Berkovic - Annual review of genomics …, 2020 - annualreviews.org
Epilepsy encompasses a group of heterogeneous brain diseases that affect more than 50
million people worldwide. Epilepsy may have discernible structural, infectious, metabolic …

Ion channels in genetic epilepsy: from genes and mechanisms to disease-targeted therapies

J Oyrer, S Maljevic, IE Scheffer, SF Berkovic… - Pharmacological …, 2018 - Elsevier
Epilepsy is a common and serious neurologic disease with a strong genetic component.
Genetic studies have identified an increasing collection of disease-causing genes. The …

ILAE definition of the idiopathic generalized epilepsy syndromes: position statement by the ILAE task force on nosology and definitions

E Hirsch, J French, IE Scheffer, A Bogacz, T Alsaadi… - …, 2022 - Wiley Online Library
Abstract In 2017, the International League Against Epilepsy (ILAE) Classification of
Epilepsies described the “genetic generalized epilepsies”(GGEs), which contained the …

The GABAA receptor as a therapeutic target for neurodevelopmental disorders

S Braat, RF Kooy - Neuron, 2015 - cell.com
Intellectual disability, autism spectrum disorder, and epilepsy are prime examples of
neurodevelopmental disorders that collectively affect a significant percentage of the world …

TMS-EEG signatures of GABAergic neurotransmission in the human cortex

I Premoli, N Castellanos, D Rivolta… - Journal of …, 2014 - Soc Neuroscience
Combining transcranial magnetic stimulation (TMS) and electroencephalography (EEG)
constitutes a powerful tool to directly assess human cortical excitability and connectivity …

The neurobiology of antiepileptic drugs

MA Rogawski, W Löscher - Nature reviews neuroscience, 2004 - nature.com
Antiepileptic drugs (AEDs) provide satisfactory control of seizures for most patients with
epilepsy. The drugs have the remarkable ability to protect against seizures while permitting …

Adult epilepsy

JS Duncan, JW Sander, SM Sisodiya, MC Walker - The Lancet, 2006 - thelancet.com
The epilepsies are one of the most common serious brain disorders, can occur at all ages,
and have many possible presentations and causes. Although incidence in childhood has …

GABAA receptor trafficking and its role in the dynamic modulation of neuronal inhibition

TC Jacob, SJ Moss, R Jurd - Nature Reviews Neuroscience, 2008 - nature.com
GABA (γ-aminobutyric acid) type A receptors (GABAARs) mediate most fast synaptic
inhibition in the mammalian brain, controlling activity at both the network and the cellular …

GABRA1 and STXBP1: Novel genetic causes of Dravet syndrome

GL Carvill, S Weckhuysen, JM McMahon, C Hartmann… - Neurology, 2014 - AAN Enterprises
Objective: To determine the genes underlying Dravet syndrome in patients who do not have
an SCN1A mutation on routine testing. Methods: We performed whole-exome sequencing in …

Calcium-permeable AMPA receptor dynamics mediate fear memory erasure

RL Clem, RL Huganir - science, 2010 - science.org
Traumatic fear memories can be inhibited by behavioral therapy for humans, or by extinction
training in rodent models, but are prone to recur. Under some conditions, however, these …