Autosomal Dominant Nocturnal Frontal Lobe Epilepsy - Causes

Causes

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, K-complex are almost invariably present at the start of seizures. It is thought that epilepsy is caused because these receptor subunits are expressed presynaptically by neurons that release the inhibitory transmitter GABA. Therefore, the mutation in the alpha-4 sunubit could lead to reduced GABA release, causing hyperexcitability.