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 …
million people worldwide. Epilepsy may have discernible structural, infectious, metabolic …
Ion channels in genetic epilepsy: from genes and mechanisms to disease-targeted therapies
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 …
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
Abstract In 2017, the International League Against Epilepsy (ILAE) Classification of
Epilepsies described the “genetic generalized epilepsies”(GGEs), which contained the …
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 …
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 …
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 …
epilepsy. The drugs have the remarkable ability to protect against seizures while permitting …
Adult epilepsy
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 …
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 …
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 …
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 …
training in rodent models, but are prone to recur. Under some conditions, however, these …