Neonatal Encephalopathy with Seizures
Breed: Poodle/ miniature
Generic Phene Data
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
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.
HSP Test-Specific Data
Zoolyx
GTP
GTP Name
Zoolyx
Breed
OMIA
Gene Name
ATF2
Mutation
c.152T>G
Weatherbys Scientific
GTP
GTP Name
Weatherbys Scientific
Breed
OMIA
Gene Name
ATF2
Mutation
c.152T>G
VHL Genetics
GTP
GTP Name
VHL Genetics
Breed
OMIA
Gene Name
ATF2
Mutation
c.152T>G
Progènes-ADN
GTP
GTP Name
Progenes ADN
Breed
OMIA
Gene Name
ATF2
Mutation
c.152T>G
PharmaDNA
GTP
GTP Name
PharmaDNA
Breed
OMIA
Gene Name
ATF2
Mutation
c.152T>G
Paw Print Genetics
GTP
GTP Name
Paw Print Genetics
Breed
OMIA
Gene Name
ATF2
Mutation
c.152T>G
Nature of test
mutation test
FCI Number
172
Laboratorios Labocor S.L.
GTP
GTP Name
Laboratorios Labocor S.L.
Breed
OMIA
Gene Name
ATF2
Mutation
c.152T>G
INNO
GTP
GTP Name
INNO
Breed
OMIA
Gene Name
ATF2
Mutation
c.152T>G
GenSol Diagnostics
GTP
GTP Name
GenSol Diagnostics
Breed
OMIA
Gene Name
ATF2
Mutation
c.152T>G
CMSCH
GTP
GTP Name
CMSCH
Breed
OMIA
Gene Name
ATF2
Mutation
c.152T>G
Certagen GmbH
GTP
GTP Name
Primary Lens Luxation (PLL)
Breed
OMIA
Gene Name
ATF2
Mutation
c.152T>G
BioBank AS
GTP
GTP Name
BioBank AS
Breed
OMIA
Gene Name
ATF2
Mutation
c.152T>G
Agrotis S.r.l.
GTP
GTP Name
Agrotis S.r.l.
Breed
OMIA
Gene Name
ATF2
Mutation
c.152T>G