A missense mutation in the neuronal nicotinic acetylcholine receptor α4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy

Abstract

Epilepsy affects at least 2% of the population at some time in their lives1. The epilepsies are a heterogeneous group of disorders, many with an inherited component2. Although specific genes have been identified in a few rare diseases causing seizures as part of a more diffuse brain disorder3–4, the molecular pathology of the common idiopathic epilepsies is still unknown. Linkage has been reported for some generalised epilepsy syndromes5–7, but only very recently for familial partial epilepsy syndromes8,9. Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is a partial epilepsy causing frequent, violent, brief seizures at night, usually beginning in childhood10,11. The gene for ADNF..