A new Chrna4 mutation with low penetrance in nocturnal frontal lobe epilepsy.

Purpose: To identify and characterize the mutation(s) causing nocturnal frontal lobe epilepsy in a German extended family.

Methods: Neuronal nicotinic acetylcholine receptor (nAChR) subunit genes were screened by direct sequencing. Once a CHRNA4 mutation was identified, its biophysical and pharmacologic properties were characterized by expression experiments in Xenopus oocytes.

A splice-site mutation in GABRG2 associated with childhood absence epilepsy and febrile convulsions.

Context: Missense mutations in the GABRG2 gene, which encodes the gamma 2 subunit of central nervous gamma-aminobutyric acid (GABA)(A) receptors, have recently been described in 2 families with idiopathic epilepsy. In one of these families, the affected individuals predominantly exhibited childhood absence epilepsy and febrile convulsions.

Objective: To assess the role of GABRG2 in the genetic predisposition to idiopathic absence epilepsies.

Tandem pore domain K(+)-channel TASK-3 (KCNK9) and idiopathic absence epilepsies.

Recently, the gene coding for the tandem pore domain K(+)-channel TASK-3 (KCNK9) has been localized to the chromosomal region 8q24. Because mutations in ion channel genes have been recognized as an important factor in the etiology of abnormal neuronal excitability, TASK-3 is an interesting candidate gene for epilepsies linked to 8q24. We therefore performed a mutation analysis of the TASK-3 gene in 65 patients with childhood and juvenile absence epilepsy.