{"id":"W2591153005","doi":"10.1073/pnas.1614478114","title":"Generalized myoclonic epilepsy with photosensitivity in juvenile dogs caused by a defective DIRAS family GTPase 1","year":2017,"lang":"en","type":"article","venue":"Proceedings of the National Academy of Sciences","topic":"Genetics and Neurodevelopmental Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":56,"is_retracted":false,"has_abstract":true,"ca_institutions":"Mental Health Research Canada; Hospital for Sick Children; University of Toronto; University of Guelph","funders":"Ontario Ministry of Research and Innovation; European Research Council; Jane ja Aatos Erkon Säätiö; Epilepsiatutkimussäätiö; Academy of Finland; Albert-Heim-Stiftung; American Kennel Club Canine Health Foundation","keywords":"Juvenile myoclonic epilepsy; Epilepsy; Idiopathic generalized epilepsy; GTPase; Myoclonic Jerk; Progressive myoclonus epilepsy; Myoclonic epilepsy; Medicine; Generalized epilepsy; Family history; Neuroscience; Psychology; Genetics; Biology; Internal medicine","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":[0.0001208779,0.0003742657,0.0002104341,0.0004741728,0.0001538136,0.0001271487,0.00009282804,0.0003306643,0.0008741886],"category_scores_gemma":[0.000183803,0.0001510294,0.0001773769,0.0001126193,0.0003857715,0.0001081537,0.0002221887,0.0002193647,0.0001325555],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002542839,"about_ca_system_score_gemma":0.0001378409,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000901032,"about_ca_topic_score_gemma":0.002322173,"domain_scores_codex":[0.9999179,0.00001328652,0.000009456378,0.00002249131,0.00001470584,0.00002223484],"domain_scores_gemma":[0.999877,0.00001906785,0.00005948984,0.000005761311,0.000006583064,0.00003210265],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.0007331839,0.0001532815,0.100148,0.0002243499,0.00007591443,0.1348675,0.000544353,0.000484578,0.753106,0.0005078185,0.0006573676,0.008497652],"study_design_scores_gemma":[0.00008931028,0.0009386208,0.6004925,0.00003383967,0.0001277144,0.341837,0.0003651145,0.001896844,0.05103696,0.0003173996,0.002831748,0.00003295939],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9992218,0.000141072,0.0002521923,0.00002821303,0.000003287573,0.00000541291,0.00004238017,0.00002256847,0.000282965],"genre_scores_gemma":[0.9993774,0.00007865603,0.000198166,0.00001545985,0.000003286327,0.000002313523,0.00007370119,0.000003784801,0.0002472513],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.000901032,"threshold_uncertainty_score":0.002924442,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02200365819102642,"score_gpt":0.2762594983603432,"score_spread":0.2542558401693168,"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."}}