Epilepsy is a common neurological disorder that affects over 70 million people worldwide.
Despite the recent introduction of new antiseizure drugs (ASDs), about one-third of patients …

The voltage-gated sodium channel α-subunit genes comprise a highly conserved gene
family. Mutations of three of these genes, SCN1A, SCN2A and SCN8A, are responsible for a …

Understanding the natural history of and factors associated with pharmacoresistant epilepsy
provides the foundation for formulating mechanistic hypotheses that can be evaluated to …

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 …

A goal of human genetics studies is to determine the mechanisms by which genetic variation
produces phenotypic differences that affect human health. Efforts in this respect have …

Voltage‐gated sodium channels initiate action potentials in brain neurons, and sodium
channel blockers are used in therapy of epilepsy. Mutations in sodium channels are …

Epilepsy, a common multifactorial neurological disease, affects about 69 million people
worldwide constituting nearly 1% of the world population. Despite decades of extensive …

Pharmacogenetics deals with inherited differences in the response to drugs. The best-
recognized examples are genetic polymorphisms of drug-metabolizing enzymes, which …

Since the first mutations of the neuronal sodium channel SCN1A were identified 5 years
ago, more than 150 mutations have been described in patients with epilepsy. Many are …

We introduce a new framework for the analysis of association studies, designed to allow
untyped variants to be more effectively and directly tested for association with a phenotype …