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Neonatal Encephalopathy with Seizures

Breed: Cockapoo

Generic Phene Data

General

Disease Name
Neonatal Encephalopathy with Seizures
OMIA
1471
Gene Name
ATF2
Mutation
c.152T>G
Disease Code
NEWS
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
Inheritance
AR
Gene Name Text
activating transcription factor 2

Breed Specific Data

VetGen LLC

Link to GTP
Breed
Gene Name
ATF2
Mutation
c.152T>G

GenSol Diagnostics

Link to GTP
Breed
Gene Name
ATF2
Mutation
c.152T>G

Paw Print Genetics

Link to GTP
Breed
Gene Name
ATF2
Mutation
c.152T>G
Nature of test
mutation test
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