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Neonatal Encephalopathy with Seizures
Breeds
Relevance Rating: There is some evidence or research available for these breeds
Relevance Rating: The test is unknown, there is no evidence (i.e. research) available, or it has not been evaluated yet. These tests may or may not be meaningful for these breeds
GTPs
General
Disease Name
Neonatal Encephalopathy with Seizures
OMIA
1471
Gene Name
ATF2
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.
Body/System/Process
Neurologic
OMIA Url
Inheritance
AR
Breed Specific Info
Researched Breeds
Standard Poodles
Breed-specific 1
Standard Poodles
Breed-specific 1 Details
2008 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.
Breed-specific 2
Goldendoodle
Breed-specific 2 Details
Note that the Breed Relevance Rating for Goldendoodles only applies to crosses of Golden Retriever X Standard Poodles, not necessarily any poodle variety.
