{"id":"W2592093370","doi":"10.1177/2329048x17691396","title":"Two Novel <i>KCNQ2</i> Mutations in 2 Families With Benign Familial Neonatal Convulsions","year":2017,"lang":"en","type":"article","venue":"Child Neurology Open","topic":"Ion channel regulation and function","field":"Biochemistry, Genetics and Molecular Biology","cited_by":11,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University; McGill University Health Centre; Montreal Children's Hospital","funders":"","keywords":"Missense mutation; Phenotype; Epilepsy; Encephalopathy; Convulsion; Medicine; Psychomotor retardation; Genetics; Psychomotor learning; Pediatrics; Biology; Internal medicine; Gene; Pathology; Psychiatry; Cognition","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":[0.0005417102,0.003147874,0.0007855035,0.00157093,0.001569148,0.0009259233,0.001245357,0.002699827,0.002025419],"category_scores_gemma":[0.003851735,0.0009842667,0.000923734,0.000964787,0.002043775,0.0007524047,0.001738674,0.001409346,0.0005121265],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001029089,"about_ca_system_score_gemma":0.0005932763,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003312429,"about_ca_topic_score_gemma":0.00317768,"domain_scores_codex":[0.998922,0.0001671696,0.0001193823,0.000338448,0.0002021755,0.0002507269],"domain_scores_gemma":[0.9982158,0.0005705606,0.0005320017,0.00006657442,0.000135568,0.0004795005],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"observational","study_design_scores_codex":[0.0001921666,0.0001441461,0.02941425,0.00005526956,0.00005115475,0.9542442,0.001366783,0.0002792858,0.007864871,0.0005626302,0.001117329,0.004707988],"study_design_scores_gemma":[0.00008420336,0.0001741878,0.03849728,0.00003026367,0.00004889293,0.9569423,0.0002326693,0.0002913524,0.001887531,0.0002882325,0.001478326,0.00004468541],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.993136,0.0006771245,0.001313109,0.0009138078,0.0001903909,0.00008483286,0.0002071461,0.00007964712,0.003397961],"genre_scores_gemma":[0.9970146,0.0002181904,0.001019772,0.0004651498,0.0002194301,0.00004482673,0.0001765346,0.00004683732,0.0007946531],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003312429,"threshold_uncertainty_score":0.007466614,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01616061821171622,"score_gpt":0.2699419657426548,"score_spread":0.2537813475309386,"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."}}