{"id":"W1974288468","doi":"10.1111/epi.12730","title":"Linkage analysis and exome sequencing identify a novel mutation in <i><scp>KCTD</scp>7</i> in patients with progressive myoclonus epilepsy with ataxia","year":2014,"lang":"en","type":"article","venue":"Epilepsia","topic":"Glycogen Storage Diseases and Myoclonus","field":"Medicine","cited_by":33,"is_retracted":false,"has_abstract":true,"ca_institutions":"Children’s Health Research Institute; London Health Sciences Centre; Western University","funders":"Canadian Institutes of Health Research","keywords":"Exome sequencing; Epilepsy; Ataxia; Progressive myoclonus epilepsy; Myoclonus; Genetics; Epilepsy syndromes; Mutation; Population; Genetic heterogeneity; Biology; Channelopathy; Genetic linkage; Exome; Epileptogenesis; Phenotype; Medicine; Neuroscience; Gene","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":false,"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":[0.0001342219,0.0005138309,0.0002283085,0.0006221703,0.0003458617,0.0002805224,0.000232975,0.0006610567,0.001174774],"category_scores_gemma":[0.0005351772,0.0001509037,0.0002843826,0.0005214101,0.0002572931,0.0001231517,0.000268328,0.0003099355,0.0002317401],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001991123,"about_ca_system_score_gemma":0.0001720294,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001288441,"about_ca_topic_score_gemma":0.002344012,"domain_scores_codex":[0.9998745,0.00001754522,0.00001979729,0.0000357657,0.00003366246,0.00001882318],"domain_scores_gemma":[0.9998257,0.00006901023,0.00004424808,0.000009526068,0.00001769846,0.00003394722],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00125671,0.0003796695,0.4531275,0.0001825652,0.0004052628,0.2599558,0.001746365,0.001587066,0.2321642,0.001097908,0.002773161,0.04532381],"study_design_scores_gemma":[0.0002081962,0.0007321108,0.6066309,0.00005524721,0.0003556379,0.3491961,0.0004843371,0.004484573,0.03203815,0.0008783839,0.004885869,0.00005058169],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9987124,0.00009952125,0.0004858238,0.00008606047,0.000005083869,0.00001286392,0.0001738527,0.00001612227,0.0004082844],"genre_scores_gemma":[0.9986553,0.00006521194,0.0006826011,0.00005659615,0.00001081427,0.000006109044,0.0002551221,0.000006206467,0.0002619641],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001288441,"threshold_uncertainty_score":0.003930032,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.006824537575298257,"score_gpt":0.2338307752870974,"score_spread":0.2270062377117991,"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."}}