{"id":"W3119651095","doi":"10.1111/epi.16801","title":"Expanding the phenotype of <i>PIGS</i>‐associated early onset epileptic developmental encephalopathy","year":2021,"lang":"en","type":"article","venue":"Epilepsia","topic":"Lysosomal Storage Disorders Research","field":"Medicine","cited_by":18,"is_retracted":false,"has_abstract":true,"ca_institutions":"Université de Montréal; Centre Hospitalier Universitaire Sainte-Justine","funders":"Medical Research Council; Great Ormond Street Hospital Charity; Rosetrees Trust; University College London; Brain Research UK; Ministero dell’Istruzione, dell’Università e della Ricerca; National Institute for Health and Care Research; Ataxia UK; Wellcome Trust; Muscular Dystrophy Association","keywords":"Microcephaly; Epilepsy; Global developmental delay; Hypotonia; Phenotype; Encephalopathy; Intellectual disability; Medicine; Genetics; Biology; Pediatrics; Neuroscience; Gene; 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":"codex-gemma-dda1882f352a","candidate_categories":["insufficient_payload"],"consensus_categories":[],"category_scores_codex":[0.0004249862,0.0001671757,0.0003580058,0.00008016183,0.00017707,0.00003116569,0.0002054644,0.0001103437,0.001412048],"category_scores_gemma":[0.001200246,0.0001268354,0.0001392469,0.0007381387,0.0001790275,0.00008731213,0.0001563677,0.0003652088,0.0002185663],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002038339,"about_ca_system_score_gemma":0.00053721,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001223963,"about_ca_topic_score_gemma":0.00004720351,"domain_scores_codex":[0.998026,0.0001893776,0.0003702773,0.0003044762,0.0006700748,0.0004398358],"domain_scores_gemma":[0.9988933,0.0002618084,0.0001077701,0.0003107104,0.0002806326,0.000145826],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0002896069,0.0007319829,0.9011198,0.0001001296,0.0003644461,0.0006681941,0.006520038,0.00000332256,0.07381058,0.0001937565,0.006834533,0.009363662],"study_design_scores_gemma":[0.001525307,0.0002262899,0.9750636,0.0001856087,0.00007154108,0.00009565582,0.001865056,0.00004137151,0.01979066,0.0002408641,0.0007109962,0.0001830794],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9887094,0.0006840588,0.00005977579,0.0007102399,0.0001562563,0.000301639,0.0000289359,0.00005000292,0.00929972],"genre_scores_gemma":[0.9969696,0.0000928826,0.0005219006,0.0003858677,0.00006110907,0.00002757777,0.00009603533,0.00003261636,0.001812381],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.07394382,"threshold_uncertainty_score":0.9995008,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02537956508407365,"score_gpt":0.2892132518811723,"score_spread":0.2638336867970987,"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."}}