Autosomal dominant nocturnal frontal lobe epilepsy
(ADNFLE) is a rare epileptic disorder that causes frequent violent seizures during sleep. These seizures often involve complex motor movements, such as hand clenching, arm raising/lowering, and knee bending. Vocalizations such as shouting, moaning, or crying are also common. ADNFLE is often misdiagnosed as nightmares
. Attacks often occur in clusters and typically first manifest in childhood. There are four known loci for ADNFLE, three with known causative genes. These genes encode various nicotinic acetylcholine receptor
α and β subunits CHRNA4, CHRNB2, and CHRNA2.
Signs and symptoms
ADNFLE is a partial epilepsy disorder characterized by brief violent seizures during sleep. Seizures are complex, consisting of arm and leg movements, fist clenching, and vocalizations such as yelling and moaning. These seizures often occur in clusters and can first manifest in childhood. Diagnosis is often initially incorrectly made as nightmares
, night terrors
and various psychiatric disorders.
While not well understood, it is believed that malfunction in thalamocortical loops
plays a vital role in ADNFLE. The reasons for this belief are threefold. Firstly, thalamocortical loops are important in sleep
and the frontal cortex
is the origin of ADNFLE seizures. Secondly, both the thalamus
and cortex receive cholinergic inputs and acetylcholine receptor
subunits comprise the three known causative genes for ADNFLE. Thirdly,... Read More