The same genetic variant found in different individuals can cause a range of diverse
phenotypes, from no discernible clinical phenotype to severe disease, even among related …

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 …

Cytosine base editors (CBEs) efficiently generate precise C· G-to-T· A base conversions, but
the activation-induced cytidine deaminase/apolipoprotein B mRNA-editing enzyme catalytic …

Only relatively recently has it become clear that mammalian genomes encode tens of
thousands of long non-coding RNAs (lncRNAs). A striking 40% of these are expressed …

Epilepsy genetics is a rapidly developing field, in which novel disease‐associated genes,
novel mechanisms associated with epilepsy, and precision medicine approaches are …

Developmental and epileptic encephalopathies are devastating disorders characterized by
epilepsy, intellectual disability, and other neuropsychiatric symptoms, for which available …

Epilepsy is a group of disorders characterized by recurrent seizures, and is one of the most
common neurological conditions. The genetic basis of epilepsy is clear from epidemiological …

Among the nine subtypes of human voltage-gated sodium (Nav) channels, the brain and
cardiac isoforms, Nav1. 1 and Nav1. 5, each carry more than 400 missense mutations …

Objective Dravet syndrome (DS) is a severe developmental and epileptic encephalopathy
characterized by the onset of prolonged febrile and afebrile seizures in infancy, and evolving …

Autosomal‐dominant spinocerebellar ataxias, autosomal‐recessive spinocerebellar ataxias,
and hereditary spastic paraplegias have traditionally been designated in separate …