The genes typically code for proteins known to be involved in synaptic transmission, ion channels or ion transporters. The first gene to be identified was the PRRT2 gene on chromosome 16, found in 2011 to be the cause of the disease in some patients. The mutations in this gene included a nonsense mutation identified in the genome of one family and an insertion mutation identified in the genome of another family. Researchers found PRRT2 mutations in 10 of 29 sporadic cases affected with PKD, thus suggests PRRT2 is the gene mutated in a subset of PKD and PKD is genetically heterogeneous. Later reports have identified the genes SCN8A, CHRNA4, and SLC16A2 as further causes of PKD. Pathophysiology
The pathophysiology of PKD is not fully explained. A few mechanisms have been suggested thus far:

GABA dysregulation
Abnormal breakdown of dopamine in the basal ganglia
Dysfunction of the substantia nigra
A form of epilepsyMultiple methods are being used to study the potential brain abnormalities of individuals with PKD compared with “normal” individuals. These methods include SPECT studies, fMRI studies, and diffusion tensor imaging. The main problem with many of the studies concerned with the pathophysiology of the disorder is the small sample size. Because the studies normally only include about 7-10 patients with PKD, the results cannot be generalized to the entire population of patients. However, the studies do bring up possibilities for further study.
Distinguishing features
Some features are more or less likely to suggest PNES but they are not conclusive and should be considered in the broader clinical picture. Features that are common in PNES but rarer in epilepsy include: biting the tip of the tongue, seizures lasting more than two minutes (easiest factor to distinguish), seizures having a gradual onset, a fluctuating course of disease severity, the eyes being closed during a seizure, and side to side head movements. Features that are uncommon in PNES include automatisms (automatic complex movements during the seizure), severe tongue biting, biting the inside of the mouth, and incontinence.If a person with suspected PNES has an episode during a clinical examination, there are a number of signs that can be elicited to help support or refute the diagnosis of PNES. Compared to people with epilepsy, people with PNES will tend to resist having their eyes forced open (if they are closed during the seizure), will stop their hands from hitting their own face if the hand is dropped over the head, and will fixate their eyes in a way suggesting an absence of neurological interference. Treatment
Patient understanding of the new diagnosis is crucial for their treatment, which requires their active participation. There are a number of recommended steps to explain to people their diagnosis in a sensitive and open manner. A negative diagnosis experience may cause frustration and could cause a person to reject any further attempts at treatment.