{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003248411,0.0001259698,0.0001506722,0.0001005227,0.0001231359,0.0000206145,0.0001242051,0.00006983485,0.00002120151],"category_scores_gemma":[0.0002090482,0.000123828,0.00003164219,0.0002020418,0.0001117615,0.000005871285,0.0002070926,0.0001381588,0.000001012577],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00003748713,"about_ca_system_score_gemma":0.00005393363,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00003866324,"about_ca_topic_score_gemma":0.00001928939,"domain_scores_codex":[0.9987444,0.0001156037,0.00032481,0.0004185292,0.0001983648,0.0001982925],"domain_scores_gemma":[0.9996478,0.00002062572,0.00009014521,0.0001186431,0.00003290526,0.00008987732],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.0001067431,0.0001482376,0.01613412,0.00003618353,0.000008785154,0.00005573775,0.0002555741,0.00005393181,0.9812504,0.0003474332,0.00003566821,0.0015672],"study_design_scores_gemma":[0.0006096027,0.0006660685,0.3396214,0.000009900209,0.0000121914,0.00005260599,0.0002758506,0.00002547827,0.6579667,0.0005307156,0.00006101046,0.0001684014],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9973239,0.001724691,0.0003205617,0.00007483406,0.00002838256,0.000456971,0.00004100976,0.000006405241,0.0000232182],"genre_scores_gemma":[0.9989321,0.00004028592,0.0002013303,0.0000826328,0.00001016459,0.0000808355,0.0006154234,0.00001170756,0.00002548656],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.3234873,"threshold_uncertainty_score":0.504956,"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."}}