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Epileptic Encephalopathy (EE) in cats is a rare, inherited neurological disorder caused by a mutation in the carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase (CAD) gene.
10 días laborables
Especificaciones
| Breeds | |
|---|---|
| Gene | |
| Organ | |
| specimen | Hisopo, sangre EDTA, sangre Heparina, Semen, Tejido |
| Mode of Inheritance | |
| Chromosome | |
| Also known as | |
| Year Published |
Información específica de la prueba
Epileptic Encephalopathy (EE) in cats is a rare, inherited neurological disorder caused by a mutation in the carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase (CAD) gene. This CAD gene is known to encode a multifunctional enzyme, which is essential for the production of DNA, RNA, and other critical cellular processes. The mutation disrupts normal metabolic function in the brain, leading to early-onset, drug-resistant seizures and progressive neurological deterioration. The mutation is found in Bengal cats.
Características clínicas
EE in Bengal cats typically begins around 10 to 12 weeks of age. Affected kittens display seizures that often occur during sleep and tend to appear in clusters. These seizures may include sudden muscle jerks (myoclonic seizures), stiff body arching, rigid limbs, facial twitching, drooling, and repetitive chewing motions. Episodes are often accompanied by brief loss of awareness. Afterward, kittens may appear disoriented, agitated, excessively tired, or display unusual behaviour such as biting at their paws or the floor. As the condition progresses, many cats show reduced reflexes, decreased alertness, and signs of developmental regression. The seizures are usually resistant to anti-epileptic medications, and the neurological decline is rapid. Due to the poor quality of life and lack of effective treatment, most affected kittens are euthanized within the first few months of life.
Información adicional
Referencias
Pubmed ID: 40251393
Omia ID: 2939