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H812

Neonatal Encephalopathy with Seizures (NEWS) is a hereditary brain disorder that primarily affects the cerebellum.

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Caractéristiques

Breeds

Gene

Organ

specimen

Écouvillonnage, sanguin EDTA, sanguine hépariné, sperme, tissu

Mode of Inheritance

Chromosome

Also known as

Year Published

Informations générales

Neonatal Encephalopathy with Seizures (NEWS) is a hereditary brain disorder that primarily affects the cerebellum. It is an autosomal recessive condition caused by a mutation in the activating transcription factor 2 (ATF2) gene. NEWS is known to be widespread in the Standard Poodle breed if not controlled through genetic selection.

Caractéristiques cliniques

The onset of NEWS can be observed in newborn puppies, who typically appear significantly weaker and smaller than their littermates. If they survive the first week of life, mobility issues and seizures often become apparent. Those that make it past this initial period usually develop ataxia and tremors. By 4 to 6 weeks of age, they experience severe generalized tonic-clonic seizures, which do not respond to therapeutic treatment. Affected puppies generally do not survive beyond the seventh week of life.

Additional Information

Références

Pubmed ID: 18074159

Omia ID: 1471

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