The genetic basis of many epilepsies is increasingly understood, giving rise to the possibility
of precision treatments tailored to specific genetic etiologies. Despite this, current medical …

Epilepsy encompasses a group of heterogeneous brain diseases that affect more than 50
million people worldwide. Epilepsy may have discernible structural, infectious, metabolic …

Genome-wide association studies have uncovered thousands of common variants
associated with human disease, but the contribution of rare variants to common disease …

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 …

The epilepsies affect around 65 million people worldwide and have a substantial missing
heritability component. We report a genome-wide mega-analysis involving 15,212 …

SCN1A, encoding the alpha 1 subunit of the sodium channel, is associated with several
epilepsy syndromes and a range of other diseases. SCN1A represents the archetypal …

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 …

The first phase of genome-wide association studies (GWAS) assessed the role of common
variation in human disease. Advances optimizing and economizing high-throughput …

The most common forms of acquired epilepsies arise following acute brain insults such as
traumatic brain injury, stroke, or central nervous system infections. Treatment is effective for …

Objective “How many epilepsy genes are there?” is a frequently asked question. We sought
to (1) provide a curated list of genes that cause monogenic epilepsies, and (2) compare and …