{"id":"W3136248507","doi":"10.1002/ajmg.a.62181","title":"Pathogenic variants in <scp><i>KCNQ2</i></scp> cause intellectual deficiency without epilepsy: Broadening the phenotypic spectrum of a potassium channelopathy","year":2021,"lang":"en","type":"article","venue":"American Journal of Medical Genetics Part A","topic":"Genetics and Neurodevelopmental Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":19,"is_retracted":false,"has_abstract":true,"ca_institutions":"Centre Intégré Universitaire de Santé et de Services Sociaux du Saguenay–Lac-Saint-Jean; Centre Intégré Universitaire de Santé et de Services Sociaux du Centre-Sud-de-l'Île-de-Montréal; Université de Sherbrooke","funders":"","keywords":"Phenotype; Missense mutation; Exome sequencing; Epilepsy; Genetics; Biology; Intellectual disability; Copy-number variation; In silico; Gene; Genotype-phenotype distinction; Genome; Neuroscience","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":[0.0007599448,0.0002325082,0.0004350324,0.0001038628,0.00006935602,0.00002539498,0.0006407499,0.0001227229,0.0000454639],"category_scores_gemma":[0.001279398,0.0001844984,0.0001737995,0.0005411927,0.0005673887,0.000003668669,0.0003116049,0.0004293955,0.000005161387],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001890328,"about_ca_system_score_gemma":0.0009412466,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001036477,"about_ca_topic_score_gemma":0.00008916738,"domain_scores_codex":[0.9972097,0.0003348317,0.0008099575,0.0003408523,0.000832821,0.0004718144],"domain_scores_gemma":[0.9986053,0.0001518652,0.0004691285,0.0003383381,0.000159376,0.0002760084],"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":[0.0003117621,0.001741068,0.08647517,0.0001013988,0.0006145563,0.0008433653,0.01080868,0.001677456,0.8157246,0.0001000695,0.004950484,0.07665138],"study_design_scores_gemma":[0.009092313,0.01088107,0.4788023,0.0008903888,0.0005981044,0.006601631,0.03428553,0.00264352,0.399952,0.001163656,0.05382463,0.001264873],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9906322,0.005677745,0.002146674,0.0008211123,0.0004310678,0.00009787179,0.000009425359,0.000002668015,0.0001812715],"genre_scores_gemma":[0.9894788,0.008741516,0.0007963691,0.0007440202,0.0001224953,0.000005430631,0.00001052677,0.00003435768,0.00006646456],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.4157726,"threshold_uncertainty_score":0.7523626,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01139216226810502,"score_gpt":0.2460215444060179,"score_spread":0.2346293821379129,"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."}}