{"id":"W4310457468","doi":"10.1002/ajmg.c.32022","title":"Infantile epileptic spasms syndrome in children with cardiofaciocutanous syndrome: Clinical presentation and associations with genotype","year":2022,"lang":"en","type":"article","venue":"American Journal of Medical Genetics Part C Seminars in Medical Genetics","topic":"Genetics and Neurodevelopmental Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":10,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"National Center for Advancing Translational Sciences; National Institutes of Health; Associazione Italiana per la Ricerca sul Cancro; Bundesministerium für Bildung und Forschung; Rare Disease Foundation","keywords":"Vigabatrin; Epilepsy; Epileptic spasms; Pediatrics; Genotype; West Syndrome; Medicine; Phenotype; Clinical trial; Family history; Internal medicine; Bioinformatics; Oncology; Biology; Gene; Psychiatry; Genetics; Anticonvulsant","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":"codex-gemma-dda1882f352a","candidate_categories":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.00189928,0.0003017512,0.0006798378,0.0002243452,0.0001170471,0.00002828989,0.0007136689,0.0002116351,0.0001136375],"category_scores_gemma":[0.0003800241,0.0002670453,0.00009830897,0.0006410131,0.0008644597,0.000006130096,0.000439889,0.001015489,0.000001490321],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00005798296,"about_ca_system_score_gemma":0.001036478,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00003399748,"about_ca_topic_score_gemma":0.00012266,"domain_scores_codex":[0.994734,0.000602992,0.001152761,0.0005267006,0.002449479,0.0005340945],"domain_scores_gemma":[0.9982282,0.000133682,0.0005467448,0.0003258641,0.000109274,0.0006562511],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0001928996,0.0004869697,0.9485021,0.00001065225,0.0002511232,0.0008090484,0.0001953378,0.002459526,0.00018579,0.000002782147,0.000339331,0.04656443],"study_design_scores_gemma":[0.00311815,0.008573254,0.9744239,0.0001300805,0.0001059685,0.009058482,0.0007402769,0.0004913798,0.0001183897,0.00002602208,0.002787924,0.0004261555],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9950325,0.003250644,0.0003475066,0.0007373502,0.0002171483,0.0003369544,0.00003245093,0.00000485468,0.0000406174],"genre_scores_gemma":[0.9797634,0.01668451,0.002495268,0.0008128385,0.00005468474,0.00003236266,0.00007652552,0.000055243,0.00002518599],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.04613827,"threshold_uncertainty_score":0.9999782,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.007165348946529491,"score_gpt":0.2755703925868644,"score_spread":0.268405043640335,"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."}}