{"id":"W4297221505","doi":"10.1111/epi.17419","title":"A gain‐of‐function <i>GRIA2</i> variant associated with neurodevelopmental delay and seizures: Functional characterization and targeted treatment","year":2022,"lang":"en","type":"article","venue":"Epilepsia","topic":"Genetics and Neurodevelopmental Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":28,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"Medical Research Council; Medical Research Council Canada","keywords":"Neuroscience; Epilepsy; Medicine; Psychology","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":[],"consensus_categories":[],"category_scores_codex":[0.00006871761,0.0001355301,0.0001077606,0.00003631799,0.0001850311,0.00001192206,0.00003422978,0.00003840475,0.00005032522],"category_scores_gemma":[0.00001194221,0.0001258061,0.00002030324,0.0001013286,0.0000432874,0.00000430552,0.00009829055,0.00004777823,4.399551e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002350122,"about_ca_system_score_gemma":0.00006525538,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000009634033,"about_ca_topic_score_gemma":0.000016332,"domain_scores_codex":[0.9992279,0.0000669014,0.00014598,0.0002990673,0.0001297946,0.0001303404],"domain_scores_gemma":[0.9997397,0.000008317683,0.0000957044,0.00008388534,0.00002427421,0.00004811883],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.0006603695,0.0002971829,0.05018793,0.000008883088,0.0002041412,0.00001732582,0.000256464,0.000330812,0.9435891,0.00005343866,0.000595181,0.003799185],"study_design_scores_gemma":[0.001675319,0.001734635,0.9745063,0.000004876748,0.00004626686,0.0001104498,0.00009722244,0.0003286521,0.006471904,0.0000165933,0.01478066,0.0002271526],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9981096,0.0001045897,0.001209712,0.00007476394,0.0001139803,0.000202557,0.00006520489,0.000009020145,0.0001105236],"genre_scores_gemma":[0.9972311,0.0001510649,0.0001323488,0.0003391517,0.000009665794,0.00006786553,0.001574305,0.0000196749,0.0004748107],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.9371172,"threshold_uncertainty_score":0.5130222,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.007071534303893408,"score_gpt":0.1805868982510012,"score_spread":0.1735153639471078,"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."}}