{"topic_id":"companion_breed_health_rhodesian_ridgeback_omia4007_dog","category":"companion-breed-health","context":"---\nlicense: permission_granted\ntopic_id: companion_breed_health_rhodesian_ridgeback_omia4007_dog\ncategory: companion-breed-health\ntitle: \"Rhodesian Ridgeback — Epilepsy, generalized myoclonic, with photosensitivity (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/rhodesian_ridgeback_omia4007_4007.txt\ndate_parsed: 2026-08-02\ntokens_estimated: 301\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_rhodesian_ridgeback_omia4007_dog/01_companion_breed_health_rhodesian_ridgeback_omia4007_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: \"Rhodesian Ridgeback — Epilepsy, generalized myoclonic, with photosensitivity (hereditary; OMIA-verified breed predisposition)\"\n  url: \"https://omia.org/OMIA002095/9615/\"\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# Rhodesian Ridgeback — Epilepsy, generalized myoclonic, with photosensitivity (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: Rhodesian Ridgeback (Dog)`\n- `Disorder: `\n- `Mode of inheritance: Autosomal recessive`\n- `Clin feat: Affected Rhodesian Ridgeback (RR) dogs present with frequent myoclonic twitches that tend to begin between the age of 6 weeks and 18 months old. These episodes can be triggered by visual stimuli including flashing lights, sudden light exposure or flickering light (Wielaender et al., 2017). Generally, episodes begin when animals are recumbent and relaxed, but occasionally occur when dogs are standing (Wielaender et al., 2017). Twitches are mainly seen in the musculature of the trunk and proximal limb, as well as in cervical musculature and masticatory muscles (Wielaender et al., 2017). In 38% of dogs, the disease advanced to generalised tonic-clonic seizures within 6 months (Wielaender et al., 2017). No changes in behaviour have been noted prior to seizure episodes (Wielaender et al., 2017). Wielaender et al., 2018: Absence seizures represent another seizure type in juvenile myoclonic epilepsy (JME) in RR dogs. IT thanks DVM student Emily Gee, who provided the basis of this contribution in May 2023.`\n- `Defect: yes`\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 388251186 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene\n- OMIA molecular-genetics note: Wielaender et al. (2017): \"a 4-bp deletion in the exon 2 of the DIRAS1 gene (c.564_567delAGAC . . . CanFam3 . . . , resulting in a frameshift and a stop loss.  . . .  The genotyping of the DIRAS1 deletion in 14 clinically verified RR cases and 26 controls revealed a homozygous mutant genotype in all cases, a heterozygous genotype in the obligate carriers, and the homozygous wild-type genotype in c…\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- 2017. Generalized myoclonic epilepsy with photosensitivity in juvenile dogs caused by a defective DIRAS family GTPase 1. Proc Natl Acad Sci U S A — PubMed:PMID28223533 | DOI:10.1073/pnas.1614478114 — OMIA Phene_Article / Article\n- 2018. Absence seizures as a feature of juvenile myoclonic epilepsy in Rhodesian Ridgeback dogs. J Vet Intern Med — PubMed:PMID29194766 | DOI:10.1111/jvim.14892 — OMIA Phene_Article / Article\n- 2023. An overview of canine inherited neurological disorders with known causal variants. Animals (Basel) — PubMed:PMID38003185 | DOI:10.3390/ani13223568 — OMIA Phene_Article / Article\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:607862 (type: gene) — 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 — Rhodesian Ridgeback — Epilepsy, generalized myoclonic, with photosensitivity (hereditary; OMIA-verified breed predisposition)"],"source":{"authority":"companion-breed-health","title":"Rhodesian Ridgeback — Epilepsy, generalized myoclonic, with photosensitivity (hereditary; OMIA-verified breed predisposition)","url":"https://pubmed.ncbi.nlm.nih.gov/28223533/","retrieved":"","ref":"PMID 28223533","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":841,"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."}