Early‑Onset Epilepsy, Mitochondrial Dysfunction and Neurodegeneration

Category:

Nervous system / Neurologic - Associated with the brain, spinal cord and nerves

Gene:

PITRM1

Variant Detected:

deletion c.175_180del chr2

Severity:

Severe. This disease has a high impact on affected animals, either with severe clinical signs causing significant suffering, or carrying a rapidly fatal course.

Mode of Inheritance:

Autosomal Recessive

Research Citation(s):

https://pubmed.ncbi.nlm.nih.gov/33835239/

Associated Breed(s):

Mixed Breed,