{"topic_id":"companion_breed_health_pointer_omia1293_dog","category":"companion-breed-health","context":"---\nlicense: permission_granted\ntopic_id: companion_breed_health_pointer_omia1293_dog\ncategory: companion-breed-health\ntitle: \"Pointer — Myoclonus epilepsy of Lafora (hereditary; OMIA-verified breed predisposition)\"\nlang: en\nsource: \"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.\"\nsource_file: pdf-raw/breed-health/pointer_omia1293_1293.txt\ndate_parsed: 2026-08-02\ntokens_estimated: 80\nverification:\n  method: substring_match\n  claims: 5\n  passed: 5\n  date: 2026-08-02\nrecovered: false\npath: companion-breed-health/companion_breed_health_pointer_omia1293_dog/01_companion_breed_health_pointer_omia1293_dog.md\nsource_document: \"OMIA — Online Mendelian Inheritance in Animals (University of Sydney)\"\ncitation:\n  authority: \"OMIA — Online Mendelian Inheritance in Animals (University of Sydney)\"\n  title: \"Pointer — Myoclonus epilepsy of Lafora (hereditary; OMIA-verified breed predisposition)\"\n  url: \"https://omia.org/OMIA000690/9615/\"\n  retrieved: \"2026-08-02\"\n  ref: \"OMIA breed-specific hereditary-disorder records (omia.org), derived from local OMIA database dump; dataset: https://doi.org/10.25910/2AMR-PV70\"\n  doc_type: \"academic animal-genetics database (breed-specific disorder entries)\"\n  needs_review: false\n\n\n# Pointer — Myoclonus epilepsy of Lafora (hereditary; OMIA-verified breed predisposition)\n\nSource: 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.\n\n## Claims\n\n- `Breed: Pointer (Dog)`\n- `Disorder: `\n- `Mode of inheritance: Autosomal recessive`\n- `Defect: yes`\n- `Gen test: Barrientos et al. (2019): WGS [whole-genome sequencing] based on a PCR‐free DNA library is a suitable method for genotyping this variant.`\n## Associated gene(s)\nDerived 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.\n- Gene: Entrez Gene ID 26581065 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene\n- OMIA molecular-genetics note: In the first example of an inherited disorder in domesticated animals being shown to be due to an expanded repeat, and following a comparative positional cloning strategy (see Mapping section above), Lohi et al. (2005) reported affected Miniature Wirehaired Dachshunds as having 19 to 26 copies of a sequence of 12 nucleotides (12-mer; dodecamer) in the canine EPM2B gene (now called NHLRC1). This re…\n\n## Causal variant(s)\nDerived 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.\n- Variant: chromosome 2; pathogenicity class 1; gene ZFHX1B — OMIA Variant / Variant_Phene\n\n## Evidence (references)\nDerived 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.\n- 1976. Inherited progressive epilepsy of the dog with comparisons to Lafora's disease of man. Federation Proceedings — PubMed:PMID1261712 — OMIA Phene_Article / Article\n- 1990. Laforas Disease in an Epileptic Basset Hound. New Zealand Veterinary Journal — OMIA Phene_Article / Article\n- 1990. Laforas Disease in a Dog. Australian Veterinary Journal — PubMed:PMID2165776 — OMIA Phene_Article / Article\n- 2002. Polyglucosan storage disease in a dog resembling Lafora's disease. Journal of Veterinary Internal Medicine — PubMed:PMID11899039 — OMIA Phene_Article / Article\n- 2005. Canine epilepsy gene mutation identified. Lancet Neurol — PubMed:PMID15744941 — OMIA Phene_Article / Article\n- 2005. Expanded repeat in canine epilepsy. Science — PubMed:PMID15637270 | DOI:10.1126/science.1102832 — OMIA Phene_Article / Article\n- 2011. DNA screening for Lafora's disease in miniature wire-haired dachshunds. Vet Rec — PubMed:PMID21908571 | DOI:10.1136/vr.d5698 — OMIA Phene_Article / Article\n- 2013. Prevalence of inherited disorders among mixed-breed and purebred dogs: 27,254 cases (1995-2010). J Am Vet Med Assoc — PubMed:PMID23683021 | DOI:10.2460/javma.242.11.1549 — OMIA Phene_Article / Article\n- 2013. Inherited epilepsy in dogs. Top Companion Anim Med — PubMed:PMID24070682 | DOI:10.1053/j.tcam.2013.07.001 — OMIA Phene_Article / Article\n- 2016. NHLRC1 repeat expansion in two beagles with Lafora disease. J Small Anim Pract — PubMed:PMID27747878 | DOI:10.1111/jsap.12593 — OMIA Phene_Article / Article\n- 2016. Canine versus human epilepsy: are we up to date?. J Small Anim Pract — PubMed:PMID26931499 | DOI:10.1111/jsap.12437 — OMIA Phene_Article / Article\n- 2017. Lafora disease in miniature Wirehaired Dachshunds. PLoS One — PubMed:PMID28767715 | DOI:10.1371/journal.pone.0182024 — OMIA Phene_Article / Article\n- (16 additional references in OMIA)\n\n## Comparative medicine (human OMIM)\nDerived 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.\n- OMIM:254780 (type: trait) — OMIA Group_OMIM (via OMIA_ID)\n- OMIM:608072 (type: gene) — OMIA Group_OMIM (via OMIA_ID)\n- OMIM:620681 (type: trait) — OMIA Group_OMIM (via OMIA_ID)\nverification_derived:\n  method: derived_from_dataset\n  source: \"OMIA database dump (omia.xml, local); fields Gene/Variant/Article/OMIM\"\n  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.\"\n","sources":["companion-breed-health — Pointer — Myoclonus epilepsy of Lafora (hereditary; OMIA-verified breed predisposition)"],"source":{"authority":"companion-breed-health","title":"Pointer — Myoclonus epilepsy of Lafora (hereditary; OMIA-verified breed predisposition)","url":"https://pubmed.ncbi.nlm.nih.gov/1261712/","retrieved":"","ref":"PMID 1261712","doc_type":"official source","source_document":"","verification_file":""},"source_document":"","source_file":"","trust":{"authority_tier":"ungraded","fidelity":"verbatim","license":null,"display_grade":"pending"},"tokens_estimated":942,"generated_at":null,"tip":"Use /api/v1/topics to discover more topics. /api/v1/nutrient for precise single-point queries. /api/v1/cross_compare for 2-3 standard comparisons."}