Dog (Canis lupus familiaris) — Neonatal encephalopathy with seizures, ATF2-related (hereditary; OMIA-verified species predisposition)

--- license: permission_granted topic_id: companion_species_health_neonatal_encephalopathy_with_seizures_atf2_related_dog category: companion-species-health title: "Dog (Canis lupus familiaris) — Neonatal encephalopathy with seizures, ATF2-related (hereditary; OMIA-verified species predisposition)" lang: en source: "OMIA (Online Mendelian Inheritance in Animals, University of Sydney) species-specific hereditary-disorder record, saved verbatim to source_file; C1 substring-verified. Pulled 2026-08-24 from local OMIA database dump." source_file: pdf-raw/species-health/dog_neonatal_encephalopathy_with_seizures_atf2_related_2900.txt date_parsed: 2026-08-24 tokens_estimated: 412 verification: method: substring_match claims: 8 passed: 8 date: 2026-08-24 recovered: false path: companion-species-health/companion_species_health_neonatal_encephalopathy_with_seizures_atf2_related_dog/01_companion_species_health_neonatal_encephalopathy_with_seizures_atf2_related_dog.md source_document: "OMIA — Online Mendelian Inheritance in Animals (University of Sydney)" citation: authority: "OMIA — Online Mendelian Inheritance in Animals (University of Sydney)" title: "Dog (Canis lupus familiaris) — Neonatal encephalopathy with seizures, ATF2-related (hereditary; OMIA-verified species predisposition)" url: "https://omia.org/OMIA001471/9615/" retrieved: "2026-08-24" ref: "OMIA species-specific hereditary-disorder records (omia.org), derived from local OMIA database dump; dataset: https://doi.org/10.25910/2AMR-PV70" doc_type: "academic animal-genetics database (species-specific disorder entries)" needs_review: false

verification_derived: method: derived_from_dataset source: "OMIA database dump (omia.xml, local); fields Gene/Variant/Article/OMIM" note: "Structured fields (gene, variant rsID/protein change, PubMed/DOI references, OMIM cross-link) extracted from OMIA dump and presented with first-hand values; not verbatim prose."---

Dog (Canis lupus familiaris) — Neonatal encephalopathy with seizures, ATF2-related (hereditary; OMIA-verified species predisposition)

Source: first-hand OMIA (University of Sydney) species-specific hereditary-disorder record, saved verbatim to source_file; every claim below is a C1 byte-substring of it.

Claims

• Species: Dog (Canis lupus familiaris)
• Disorder: Neonatal encephalopathy with seizures, ATF2-related
• Summary: The disorder is characterized by pups that are small at birth, fail to nurse or thrive, then develop neurological signs and usually die by 7 weeks of age. A genetic test is available.
• Clin feat: Affected puppies are small at birth and do not develop normally. They initially nurse poorly, but begin nursing sufficiently after several days (Chen et al., 2008). 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 (Chen et al., 2008). At approximately 3 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; Yu et al. 2020).
• Pathology: The cerebellum is smaller than normal and contains dysplastic foci of cells from the granular layer intermixed with those from the Purkinje layer (Chen et al., 2008).
• Prevalence: Of 1038 standard poodles genotyped, 36% were carriers and 2.7% were affected (Chen et al., 2008).
• Control: Relatives of affected pups should be tested to identify carriers. Matings of carriers is discouraged, although breeding them to noncarriers will avoid production of affected pups.
• Gen test: A test is available.

Associated gene(s)

Derived from OMIA database dump (omia.xml, local); structured field, not verbatim prose. First-hand values below are verbatim substrings of the topic's pdf-raw/omia/<phene_id>.txt source file.

• Gene: Entrez Gene ID 26584660 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene
• OMIA molecular-genetics note: The causative variant is a missense c.152T>G transversion causing a p.M51R methionine to arginine substitution in ATF2 (Chen et al., 2008). The mutation lies in a hydrophobic docking site for protein kinases that activate ATF2. Mutant ATF2 retains partial activity (Chen et al., 2008).

Evidence (references)

Derived from OMIA database dump (omia.xml, local); structured field, not verbatim prose. First-hand values below are verbatim substrings of the topic's pdf-raw/omia/<phene_id>.txt source file.

• 2008. A neonatal encephalopathy with seizures in standard poodle dogs with a missense mutation in the canine ortholog of ATF2. Neurogenetics — PubMed:PMID18074159 | DOI:10.1007/s10048-007-0112-2 — OMIA Phene_Article / Article
• 2020. Magnetic resonance imaging and histopathologic findings from a standard poodle with neonatal encephalopathy with seizures. Front Vet Sci — PubMed:PMID33244473 | DOI:10.3389/fvets.2020.578936 — OMIA Phene_Article / Article
• 2023. An overview of canine inherited neurological disorders with known causal variants. Animals (Basel) — PubMed:PMID38003185 | DOI:10.3390/ani13223568 — OMIA Phene_Article / Article

Comparative medicine (human OMIM)

Derived from OMIA database dump (omia.xml, local); structured field, not verbatim prose. First-hand values below are verbatim substrings of the topic's pdf-raw/omia/<phene_id>.txt source file.

• OMIM:123811 (type: gene) — OMIA Group_OMIM (via OMIA_ID)