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 …

This review considers how recent advances in the physiology of ion channels and other
potential molecular targets, in conjunction with new information on the genetics of idiopathic …

Ion channel dysfunction is a key pathological substrate of episodic neurological disorders. A
classical gene associated to paroxysmal movement disorders is CACNA1A, which codes for …

CACNA1A loss-of-function mutations classically present as episodic ataxia type 2 (EA2),
with brief episodes of ataxia and nystagmus, or with progressive spinocerebellar ataxia …

Abstract Neuronal Ca2+ homeostasis and Ca2+ signaling regulate multiple neuronal
functions, including synaptic transmission, plasticity, and cell survival. Therefore …

Insight into the molecular mechanisms involved in primary headaches is important to identify
drug targets for improving treatment of patients, but essentially lacking. Genetic research is …

Developmental and epileptic encephalopathies (DEEs) are severe neurodevelopmental
disorders often beginning in infancy or early childhood that are characterized by intractable …

Zebrafish are now widely accepted as a valuable animal model for a number of different
central nervous system (CNS) diseases. They are suitable both for elucidating the origin of …

In this report, the International League Against Epilepsy (ILAE) Genetics Commission
discusses essential issues to be considered with regard to clinical genetic testing in the …

A dysfunction of cortical and limbic GABAergic circuits has been postulated to contribute to
multiple neurodevelopmental disorders in humans, including schizophrenia, autism, and …