{"id":"W2524115679","doi":"10.1111/epi.13560","title":"The molecular and phenotypic spectrum of <i><scp>IQSEC</scp>2</i>‐related epilepsy","year":2016,"lang":"en","type":"article","venue":"Epilepsia","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":58,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Toronto; SickKids Foundation; Mount Sinai Hospital","funders":"","keywords":"Epilepsy; Pediatrics; Lennox–Gastaut syndrome; Intellectual disability; Seizure types; Encephalopathy; Epileptic spasms; Medicine; Epilepsy syndromes; Cohort; West Syndrome; Psychology; Psychiatry; Internal medicine","routes":{"ca_aff":true,"ca_fund":false,"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":[0.000156826,0.0004492238,0.0002086192,0.0006345006,0.0001566824,0.0002238268,0.0001656023,0.0002414038,0.003358331],"category_scores_gemma":[0.0005868742,0.00006895317,0.0002210386,0.0004431234,0.0002609598,0.0001757188,0.0002315932,0.0001396069,0.0003825358],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001077645,"about_ca_system_score_gemma":0.0001181592,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0003905538,"about_ca_topic_score_gemma":0.0005173819,"domain_scores_codex":[0.9998899,0.00001715432,0.0000214212,0.0000230599,0.00002027165,0.00002823284],"domain_scores_gemma":[0.9997721,0.00006586,0.0000822568,0.00001103857,0.00002755006,0.00004125483],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0009809831,0.0001124938,0.8082141,0.0002140497,0.0001262459,0.1019461,0.0003038092,0.0003502471,0.05512915,0.0003539714,0.001190503,0.03107839],"study_design_scores_gemma":[0.00008216863,0.0003954274,0.7527689,0.00005971605,0.00007742474,0.2385335,0.0002804998,0.0003968449,0.005162964,0.0002809565,0.001950632,0.00001092359],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9978086,0.00042125,0.0001913118,0.00005909604,0.000003663854,0.00001331578,0.0002107963,0.00001167138,0.001280242],"genre_scores_gemma":[0.9991174,0.0001757587,0.0001808491,0.00003860663,0.00001466609,0.00000619863,0.0003136673,0.000003119704,0.0001497494],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003358331,"threshold_uncertainty_score":0.01123476,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.003509247683454982,"score_gpt":0.1983440113339638,"score_spread":0.1948347636505088,"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."}}