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 …

Understanding the aetiology of epilepsy is essential both for clinical management of patients
and for conducting neurobiological research that will direct future therapies. The aetiology of …

Epileptic encephalopathies are a devastating group of severe childhood epilepsy disorders
for which the cause is often unknown. Here we report a screen for de novo mutations in …

Sequencing-based studies have identified novel risk genes associated with severe
epilepsies and revealed an excess of rare deleterious variation in less-severe forms of …

Background The epilepsies are a clinically heterogeneous group of neurological disorders.
Despite strong evidence for heritability, genome-wide association studies have had little …

During the past 7 years, genome-wide association studies have shed light on the
contribution of common genomic variants to the genetic architecture of type 2 diabetes …

Next-generation sequencing is becoming the primary discovery tool in human genetics.
There have been many clear successes in identifying genes that are responsible for …

Epilepsy genes deliver critical insights into the molecular control of brain synchronization
and are revolutionizing our understanding and treatment of the disease. The epilepsy …

The KCC 2 cotransporter establishes the low neuronal Cl− levels required for GABAA and
glycine (Gly) receptor‐mediated inhibition, and KCC 2 deficiency in model organisms results …

Genetic mutations causing dysfunction of both voltage‐and ligand‐gated ion channels make
a major contribution to the cause of many different types of familial epilepsy. Key …