Epileptic encephalopathy (EE)

In the Bengal cat breed, a genetic variant of the CAD gene has been found to be associated with epileptic encephalopathy. An affected Bengal kitten was reported to show clusters of generalized tonic seizures and abnormal behavior, already 3 months after birth.

The seizures occurred during sleep and were characterized by sudden jumps, followed by opisthotonus associated with increased muscle tone of the thoracic limbs, head swaying, lip smacking, chewing movements, facial twitches, salivation and impaired consciousness. The seizures lasted a few seconds to a minute, and afterwards, the cat seemed to be disorientated. The kitten was general quitter compared to other kitten at the same age and displayed episodes of abnormal behavior with obtundation or agitation, accompanied by biting the floor or its own paws. Examination of the cat revealed episodes of abnormal mentation and absent menace response bilaterally, as well as increased red cell distribution width (RDW) (mild anisocytosis).

The CAD gene codes for a protein that is essential for building pyrimidine nucleotides and the nucleic acids, and plays an important role in protein glycosylation, lipid metabolism, polysaccharide biosynthesis, and signal transduction.

Because the cat showed only partial response to treatment with anti-epileptic drugs, the owners elected euthanasia due to impaired life quality.