{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00009326459,0.0008577667,0.0003573934,0.0003995136,0.0002226039,0.0002323716,0.000351384,0.0007454857,0.000647809],"category_scores_gemma":[0.0003919769,0.0001561764,0.0003497689,0.0002049565,0.0004293073,0.0001632975,0.0002278753,0.0005868798,0.0002382923],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003519714,"about_ca_system_score_gemma":0.0002143868,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001802078,"about_ca_topic_score_gemma":0.001381959,"domain_scores_codex":[0.9998825,0.000007324338,0.00001534736,0.00004373698,0.00002265898,0.00002842035],"domain_scores_gemma":[0.9998751,0.00002348631,0.00003425274,0.000005354555,0.00001218336,0.0000497189],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.0005813933,0.0001882919,0.02205982,0.00009117507,0.00004943337,0.6330311,0.0002722209,0.0004107986,0.3358149,0.0003606367,0.0004216479,0.006718572],"study_design_scores_gemma":[0.0000850861,0.0008773225,0.08469298,0.00001823757,0.00008364969,0.8407808,0.0001986734,0.001691241,0.06905019,0.0002460862,0.002246734,0.00002901047],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.997461,0.0004343007,0.0009042902,0.0002383837,0.00002091896,0.00003240165,0.0002601577,0.00004807176,0.0006004712],"genre_scores_gemma":[0.9984252,0.0002394101,0.0006744648,0.000102777,0.00002537152,0.000007397828,0.0001971692,0.00001531012,0.000312956],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001802078,"threshold_uncertainty_score":0.003583193,"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."}}