--- license: permission_granted topic_id: companion_breed_health_bengal_omia6335_cat category: companion-breed-health title: "Bengal — Epileptic encephalopathy, CAD-related (hereditary; OMIA-verified breed predisposition)" lang: en source: "OMIA (Online Mendelian Inheritance in Animals, University of Sydney) breed-specific hereditary-disorder record, saved verbatim to source_file; C1 substring-verified. Pulled 2026-08-02 from local OMIA database dump." source_file: pdf-raw/breed-health/bengal_omia6335_6335.txt date_parsed: 2026-08-02 tokens_estimated: 100 verification: method: substring_match claims: 4 passed: 4 date: 2026-08-02 recovered: false path: companion-breed-health/companion_breed_health_bengal_omia6335_cat/01_companion_breed_health_bengal_omia6335_cat.md source_document: "OMIA — Online Mendelian Inheritance in Animals (University of Sydney)" citation: authority: "OMIA — Online Mendelian Inheritance in Animals (University of Sydney)" title: "Bengal — Epileptic encephalopathy, CAD-related (hereditary; OMIA-verified breed predisposition)" url: "https://omia.org/OMIA002939/9685/" retrieved: "2026-08-02" ref: "OMIA breed-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 (breed-specific disorder entries)" needs_review: false
Bengal — Epileptic encephalopathy, CAD-related (hereditary; OMIA-verified breed predisposition)
Source: first-hand OMIA (University of Sydney) breed-specific hereditary-disorder record, saved verbatim to source_file; every claim below is a C1 byte-substring of it.
Claims
Breed: Bengal (Cat)Disorder:Clin feat: Kaczmarska et al. (2025) reportnbsp; a 4-month-old Bengal kitten with intractable seizures and abnormal behavior which commenced at 13 weeks of age. As the kittennbsp;showed only partial response to treatment euthanasia was elected due to the impaired quality of life.nbsp;Defect: yes
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 398298990 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene
- OMIA molecular-genetics note: Kaczmarska et al. (2025) conducted whole genome sequencing of an affected Bengal kitten and report a likely causal <em>CAD</em> variant: "The variant, XP_011279586.1:p.(Ser2015Asn) [omia.variant1787], was predicted to affect the oligomerization of the C-terminal aspartate transcarbamylase (ATCase) of CAD. Genotyping of 110 unaffected Bengal cats revealed four additional carriers of the mutant…
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.
- 2025. Epileptic encephalopathy in a young Bengal cat caused by CAD deficiency. Sci Rep — PubMed:PMID40251393 | DOI:10.1038/s41598-025-98414-0 — 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:616457 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
- OMIM:114010 (type: gene) — OMIA Group_OMIM (via OMIA_ID)
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."