{"id":"W2278663570","doi":"10.1111/epi.13344","title":"De novo <i>GABRA1</i> mutations in Ohtahara and West syndromes","year":2016,"lang":"en","type":"article","venue":"Epilepsia","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":92,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"Japan Science and Technology Agency; Japan Society for the Promotion of Science; Ministry of Education, Culture, Sports, Science and Technology; Takeda Science Foundation; Japan Science and Technology Corporation; Japan Society for the Promotion of Science London; Japan Agency for Medical Research and Development; McGill University","keywords":"West Syndrome; Epilepsy; Dravet syndrome; Medicine; Missense mutation; Pediatrics; Myoclonic epilepsy; Mutation; Juvenile myoclonic epilepsy; Childhood absence epilepsy; Genetics; Biology; Psychiatry; Gene","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001064218,0.000581646,0.0002063095,0.0006562162,0.0002548402,0.0002560506,0.0001764563,0.00036303,0.001179177],"category_scores_gemma":[0.0004308642,0.0001668084,0.0002063172,0.0003769468,0.0002128705,0.0002016222,0.0002941812,0.0001473389,0.000193083],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001148745,"about_ca_system_score_gemma":0.00008462184,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000615001,"about_ca_topic_score_gemma":0.001103242,"domain_scores_codex":[0.9998994,0.00001096255,0.00002053258,0.00002476137,0.00001985693,0.00002442444],"domain_scores_gemma":[0.9998457,0.00003281847,0.00007325533,0.000007356473,0.00001141103,0.0000293202],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0006830459,0.00008039329,0.7577879,0.0001819097,0.000196092,0.09874909,0.0008849895,0.0001989412,0.1204547,0.0002826428,0.0005516305,0.01994864],"study_design_scores_gemma":[0.00008158207,0.0001591918,0.8033704,0.00004991152,0.0002595864,0.1784017,0.0003526149,0.0004439038,0.01448331,0.0002880353,0.002091841,0.00001790638],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9989483,0.0004407187,0.0001762889,0.00001611555,0.000002681528,0.000004663573,0.00004247282,0.000006220835,0.0003624654],"genre_scores_gemma":[0.9992688,0.0002116368,0.0003132822,0.00002630736,0.000007716438,0.000003629209,0.00005806623,0.000003299406,0.0001071816],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001179177,"threshold_uncertainty_score":0.003944755,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.007434591567752009,"score_gpt":0.2337125688493807,"score_spread":0.2262779772816287,"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."}}