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Early‑Onset Epilepsy, Mitochondrial Dysfunction and Neurodegeneration

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Test Overview:

This disease affects dogs and is an inherited neurological disease. Dogs affected with this type of epilepsy present with frequent, uncontrolled seizures, between 8 and 10 weeks of age. This form of epilepsy is rapidly progressive and typically not responsive to treatment. Affected dogs die or are euthanised within a few days of disease onset.

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

Recommended Screening:

Genetic testing of the PITRM1 gene in dogs will reliably determine if a dog is a genetic carrier of Early-Onset Epilepsy.

Research Citation(s):

https://pubmed.ncbi.nlm.nih.gov/33835239/ Hytonen, M.K., Sarviaho, R., Jackson, C.B. et al. In-frame deletion in canine PITRM1 is associated with a severe early-onset epilepsy, mitochondrial dysfunction and neurodegeneration. Hum Genet 140, 1593–1609 (2021). https://doi.org/10.1007/s00439-021-02279-y

Associated Breed(s):

Mixed Breed,
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