{"id":"W4205312940","doi":"10.1002/humu.24326","title":"Clinico‐radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency","year":2022,"lang":"en","type":"article","venue":"Human Mutation","topic":"Biochemical and Molecular Research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":19,"is_retracted":false,"has_abstract":true,"ca_institutions":"Alberta Children's Hospital","funders":"Agència de Gestió d'Ajuts Universitaris i de Recerca; Medical Research Council; Instituto de Salud Carlos III; ZonMw; University College London; University of Oxford; Ataxia UK; Departament d'Innovació, Universitats i Empresa, Generalitat de Catalunya; Generalitat de Catalunya; Bundesministerium für Bildung und Forschung; Great Ormond Street Hospital Charity; National Institute for Health and Care Research; Erasmus Medisch Centrum; Centres de Recerca de Catalunya; Brain Research UK; Eunice Kennedy Shriver National Institute of Child Health and Human Development; Rosetrees Trust; Muscular Dystrophy UK; Wellcome Trust; Muscular Dystrophy Association","keywords":"ITPA; Microcephaly; Epilepsy; Encephalopathy; Inosine monophosphate; Exome sequencing; Clinical significance; Dystonia; Indel","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":[0.0003793777,0.0004961203,0.0002677346,0.001068936,0.0002946712,0.0003336018,0.00022505,0.000342973,0.0004419399],"category_scores_gemma":[0.00177933,0.0002155526,0.0001788872,0.0004932083,0.0003666305,0.0002072832,0.0002697943,0.0002370252,0.0001517476],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001616179,"about_ca_system_score_gemma":0.0001721328,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000916918,"about_ca_topic_score_gemma":0.0005791492,"domain_scores_codex":[0.9998005,0.00005444463,0.00002879617,0.00005328252,0.00002867873,0.00003419985],"domain_scores_gemma":[0.99939,0.0002436489,0.0001720167,0.00004274857,0.00003997645,0.000111577],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0004852295,0.00006460897,0.983823,0.00001220354,0.00003080492,0.006613675,0.0001113262,0.0002684683,0.004417166,0.00003660269,0.000057608,0.004079392],"study_design_scores_gemma":[0.00002331304,0.000256332,0.9767553,0.000005527002,0.00004044121,0.02098344,0.0001155203,0.0007157815,0.0008409587,0.0000991556,0.0001532444,0.00001095625],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.999752,0.00007409875,0.00005445928,0.000007046415,6.51822e-7,0.000002460359,0.00002525544,0.000002001792,0.00008215017],"genre_scores_gemma":[0.9997603,0.00004905653,0.00006761845,0.000004380709,0.000004020416,0.000002697312,0.00007276913,9.577452e-7,0.00003810901],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001068936,"threshold_uncertainty_score":0.002006412,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01608941363690918,"score_gpt":0.2717898388508342,"score_spread":0.255700425213925,"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."}}