PRIMA1 mutations in recessive frontal lobe epilepsy

Acetylcholine. The success story of identifying epilepsy genes started with familial frontal lobe epilepsies and the discovery of CHRNA4, coding for a subunit of the nicotinergic acetylcholine receptor. Ever since this initial discovery, other gene identifications have reinforced a dysfunction in cholinergic signaling as one of the key mechanisms in genetic frontal lobe epilepsies. A recent study in the Annals of Clinical and Translational Neurology now identifies a novel gene for familial frontal lobe epilepsies, coding for an anchoring protein for acetylcholinesterase (AChE), the key enzyme breaking down acetylcholine. Continue reading