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Neonatal Encephalopathy with Seizures

Breeds

Relevance Rating: Some evidence for test being meaningful for these breeds

General

Disease Name
Neonatal Encephalopathy with Seizures
Mutation
c.152T>G
Test Type
Genetic Disease/Disorder
Details
Puppies affected by Neonatal Encephalopathy with Seizures are small at birth and do not develop normally - initially struggling to nurse. Nursing improves after several days, but at around 3 weeks of age, signs include: weakness, ataxia, whole-body tremors, wide-based stance, and muscle weakness. Pups do not interact normally with the dam or littermates and have slow responses to stimulation. Sympotoms change at 4 to 6 weeks of age to include generalized seizures. Pups usually die or are euthanized by 7 weeks of age.
Details 2
Affected puppies are small at birth and do not develop normally. They initially nurse poorly, but begin nursing sufficiently after several days... At approximately 3 weeks of age, weakness, ataxia, whole-body tremors, wide-based stance with increased extensor tone, and axial muscle weakness with neck ventroflexion is observed. Affected pups do not interact with the dam or littermates and have slow responses to external stimuli... At approximately 4 to 6 weeks of age, affected puppies develop generalized clonic-tonic seizures that quickly become refractory to treatment. They become laterally recumbent with extensor rigidity and opisthotonus, and usually die or are euthanized before 7 weeks of age (Chen et al., 2008).
Published
Chen, X., Johnson, GS., Schnabel, RD., Taylor, JF., Johnson, GC., Parker, HG., Patterson, EE., Katz, ML., Awano, T., Khan, S., O'Brien, DP. : A neonatal encephalopathy with seizures in standard poodle dogs with a missense mutation in the canine ortholog of ATF2. Neurogenetics 9:41-9, 2008. Pubmed reference: 18074159. DOI: 10.1007/s10048-007-0112-2.
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