Newfoundland — Myoclonus epilepsy of Lafora (hereditary; OMIA-verified breed predisposition)

--- license: permission_granted topic_id: companion_breed_health_newfoundland_omia1293_dog category: companion-breed-health title: "Newfoundland — Myoclonus epilepsy of Lafora (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/newfoundland_omia1293_1293.txt date_parsed: 2026-08-02 tokens_estimated: 80 verification: method: substring_match claims: 5 passed: 5 date: 2026-08-02 recovered: false path: companion-breed-health/companion_breed_health_newfoundland_omia1293_dog/01_companion_breed_health_newfoundland_omia1293_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: "Newfoundland — Myoclonus epilepsy of Lafora (hereditary; OMIA-verified breed predisposition)" url: "https://omia.org/OMIA000690/9615/" 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

Newfoundland — Myoclonus epilepsy of Lafora (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: Newfoundland (Dog)
• Disorder:
• Mode of inheritance: Autosomal recessive
• Defect: yes
• 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.

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 26581065 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene
• 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…

Causal variant(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.

• Variant: chromosome 2; pathogenicity class 1; gene ZFHX1B — OMIA Variant / Variant_Phene

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.

• 1976. Inherited progressive epilepsy of the dog with comparisons to Lafora's disease of man. Federation Proceedings — PubMed:PMID1261712 — OMIA Phene_Article / Article
• 1990. Laforas Disease in an Epileptic Basset Hound. New Zealand Veterinary Journal — OMIA Phene_Article / Article
• 1990. Laforas Disease in a Dog. Australian Veterinary Journal — PubMed:PMID2165776 — OMIA Phene_Article / Article
• 2002. Polyglucosan storage disease in a dog resembling Lafora's disease. Journal of Veterinary Internal Medicine — PubMed:PMID11899039 — OMIA Phene_Article / Article
• 2005. Canine epilepsy gene mutation identified. Lancet Neurol — PubMed:PMID15744941 — OMIA Phene_Article / Article
• 2005. Expanded repeat in canine epilepsy. Science — PubMed:PMID15637270 | DOI:10.1126/science.1102832 — OMIA Phene_Article / Article
• 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
• 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
• 2013. Inherited epilepsy in dogs. Top Companion Anim Med — PubMed:PMID24070682 | DOI:10.1053/j.tcam.2013.07.001 — OMIA Phene_Article / Article
• 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
• 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
• 2017. Lafora disease in miniature Wirehaired Dachshunds. PLoS One — PubMed:PMID28767715 | DOI:10.1371/journal.pone.0182024 — OMIA Phene_Article / Article
• (16 additional references in OMIA)

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:254780 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
• OMIM:608072 (type: gene) — OMIA Group_OMIM (via OMIA_ID)
• OMIM:620681 (type: trait) — 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."