Genetic Test
Neonatal encephalopathic seizures are a severe neurological condition observed in newborn puppies, characterized by early-onset seizures and developmental abnormalities.
Affected puppies are typically born unusually small, weak, and fail to thrive, with many dying within the first week of life.
Those that survive may exhibit generalized tremors, ataxia (loss of coordination), and seizure activity beginning around 4 to 6 weeks of age.
This condition is often resistant to conventional anti-seizure medications and is associated with a poor prognosis.
Disease Description
The ATF2 (Activating Transcription Factor 2) gene encodes a transcription factor that binds to DNA and regulates gene expression.
This protein plays a role in modulating transcription by acetylating histone proteins, thereby altering chromatin structure and gene accessibility.
In addition to its role in transcriptional regulation, ATF2 is also involved in cellular responses to DNA damage, contributing to genome stability and stress signaling.
Mutations in the ATF2 gene have been associated with neonatal encephalopathic seizures, a severe neurodevelopmental disorder affecting newborn puppies.
This genetic test targets a specific ATF2 mutation linked to neonatal encephalopathic seizure syndrome.
