{"id":"W4414457230","doi":"10.1177/08830738251377579","title":"Epilepsy due to a <i>MED25</i> Homozygous Pathogenic Founder Variant","year":2025,"lang":"en","type":"article","venue":"Journal of Child Neurology","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"Stollery Children's Hospital; Alberta Children's Hospital; University of Calgary; University of Alberta","funders":"Alberta Children's Hospital Research Institute","keywords":"Epilepsy; Phenotype; Context (archaeology); Intellectual disability; Founder effect; Seizure Disorders; Clinical significance","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":true,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00009419941,0.001018567,0.0002812473,0.0006374746,0.0005986631,0.0002884747,0.0002984349,0.0006403145,0.002418601],"category_scores_gemma":[0.0003300646,0.0001520062,0.0002782794,0.000483439,0.0006574337,0.0001190375,0.0003736714,0.000319761,0.0003468263],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000557886,"about_ca_system_score_gemma":0.0006191169,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.01429921,"about_ca_topic_score_gemma":0.021471,"domain_scores_codex":[0.9998903,0.00001093996,0.00001198669,0.00002028875,0.00002222929,0.00004424221],"domain_scores_gemma":[0.9998357,0.00005095821,0.0000454561,0.000009053998,0.00001772418,0.00004107099],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"case_report","study_design_scores_codex":[0.0001605203,0.00004273148,0.05685198,0.00007365151,0.00005241871,0.8822596,0.0006110586,0.000256957,0.04714409,0.0008316187,0.001319977,0.01039541],"study_design_scores_gemma":[0.00005512199,0.0001687169,0.2021714,0.00006632521,0.0001403099,0.7777022,0.0006207143,0.0005346882,0.01297676,0.0005771936,0.004951578,0.0000349415],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9882472,0.001302479,0.0008567243,0.0004078831,0.00005561546,0.00003622468,0.0002324722,0.0001044331,0.008756941],"genre_scores_gemma":[0.9980287,0.0004419089,0.0003637825,0.000176511,0.00004699481,0.000004774919,0.0001297843,0.00001599749,0.0007913919],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.01429921,"threshold_uncertainty_score":0.02843195,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.003405628630032329,"score_gpt":0.2173119685214885,"score_spread":0.2139063398914562,"validation_status":"score_only:v0-immature-baseline","note":"Baseline scores from an immature model (maturity gate not passed). Scores rank; they never assert a category."}}