{"id":"W3151814574","doi":"10.1111/epi.16854","title":"Diverse genetic causes of polymicrogyria with epilepsy","year":2021,"lang":"en","type":"article","venue":"Epilepsia","topic":"Epilepsy research and treatment","field":"Medicine","cited_by":30,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"Weill Institute for Neurosciences, University of California, San Francisco; National Center for Advancing Translational Sciences; National Institute of Child Health and Human Development; National Institute of Allergy and Infectious Diseases; National Human Genome Research Institute; National Institute of Mental Health; NHLBI Division of Intramural Research; National Institute on Aging; Patient-Centered Outcomes Research Institute; Medical Research Council; Eunice Kennedy Shriver National Institute of Child Health and Human Development; University of California, San Francisco; Bill and Melinda Gates Foundation; University of Washington; Università degli Studi di Firenze; University of California, Los Angeles; School of Medicine, Emory University; Perelman School of Medicine, University of Pennsylvania; School of Medicine, New York University; Centers for Disease Control and Prevention; National Institutes of Health; Monash University; Pediatric Epilepsy Research Foundation; Endocrine Fellows Foundation; J. Willard and Alice S. Marriott Foundation; Multidisciplinary University Research Initiative; National Institute of Neurological Disorders and Stroke; Zynerba Pharmaceuticals; McGill University; Zogenix; University of North Carolina at Chapel Hill; Seqirus; UCLA Health System; Eisai; Cincinnati Children's Hospital Medical Center; Irving Medical Center, Columbia University; Yale University; Cure Kids; Emory University; York University; Biogen; Vanderbilt University; National Institute of Diabetes and Digestive and Kidney Diseases; Gilead Sciences; Health Research Council of New Zealand; Epilepsiatutkimussäätiö; Vanderbilt University Medical Center; Muscular Dystrophy Association; Children's Hospital of Philadelphia; AstraZeneca; GW Pharmaceuticals; University of Pennsylvania; Johns Hopkins University; Imperial College London; Northwell Health; Ellison Medical Foundation; National Science Foundation","keywords":"Polymicrogyria; Genetics; Biology; Epilepsy; Exome sequencing; Germline; Macrocephaly; Exome; Candidate gene; Copy-number variation; Single-nucleotide polymorphism; Gene; Haploinsufficiency; Phenotype; Genome; Genotype; Neuroscience","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":["insufficient_payload"],"consensus_categories":[],"category_scores_codex":[0.00006797141,0.0001660459,0.0003847293,0.00009151308,0.00006038674,0.00001263598,0.00007491293,0.0000674302,0.001543839],"category_scores_gemma":[0.00007589578,0.0001235241,0.0001156237,0.0003091553,0.0001663592,0.0000455821,0.00006823155,0.0001523613,0.0001664891],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00005750389,"about_ca_system_score_gemma":0.0004096201,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001272975,"about_ca_topic_score_gemma":0.00008311707,"domain_scores_codex":[0.9986421,0.00006588216,0.0002375156,0.0003202086,0.0003735958,0.0003606573],"domain_scores_gemma":[0.998824,0.00008095368,0.0000692628,0.0005242504,0.0002313217,0.0002701826],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0004412641,0.000589597,0.9676431,0.0001178733,0.0004071532,0.003098633,0.0001838977,0.000003677182,0.01820304,0.0004401143,0.002468118,0.00640354],"study_design_scores_gemma":[0.003125756,0.00110086,0.8965235,0.000170468,0.0002283744,0.0005898192,0.0004278294,0.00001717311,0.09464158,0.00008284069,0.002949792,0.0001419682],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9915991,0.001618106,0.0001228929,0.0006771457,0.00007201557,0.0002702929,0.00003881103,0.00004277054,0.005558824],"genre_scores_gemma":[0.9905306,0.0004182171,0.005946171,0.0002111607,0.0001003846,0.0000233325,0.00005805423,0.00002841151,0.00268368],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.07643854,"threshold_uncertainty_score":0.9993689,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01985507184112601,"score_gpt":0.2850408942801413,"score_spread":0.2651858224390153,"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."}}