{"id":"W3193694702","doi":"10.1186/s13041-021-00838-y","title":"De novo SCN8A and inherited rare CACNA1H variants associated with severe developmental and epileptic encephalopathy","year":2021,"lang":"en","type":"article","venue":"Molecular Brain","topic":"Genetics and Neurodevelopmental Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":11,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Calgary","funders":"Univerzita Karlova v Praze","keywords":"Exome sequencing; Gene duplication; Compound heterozygosity; Sodium channel; Epilepsy; Gene; Genetics; Biology; Medicine; Phenotype; Chemistry; Neuroscience; Sodium","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":[0.0002244579,0.001480266,0.0004618964,0.001008208,0.0006733016,0.0002960895,0.0004152002,0.001434416,0.002335465],"category_scores_gemma":[0.001251744,0.0003258789,0.0003690988,0.0005022534,0.0009499771,0.0002882283,0.0005816976,0.000704408,0.0003137965],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003038253,"about_ca_system_score_gemma":0.0003393408,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001987793,"about_ca_topic_score_gemma":0.002003001,"domain_scores_codex":[0.9995862,0.00005061164,0.00005093247,0.0001395247,0.00009440623,0.0000784029],"domain_scores_gemma":[0.9991224,0.0002850559,0.0002587782,0.00004222315,0.00006371105,0.0002277244],"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":[0.0001836258,0.00008827879,0.0503859,0.00004111061,0.00004439673,0.9236993,0.0003671822,0.0003093646,0.02202098,0.0004848573,0.0003599918,0.002015082],"study_design_scores_gemma":[0.00004420953,0.0002316043,0.1120787,0.00003510334,0.00005947375,0.8767367,0.0002310713,0.001109789,0.007524144,0.0004913028,0.001425472,0.00003247135],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9969257,0.0002324992,0.0009406863,0.000281527,0.00006385667,0.00002839761,0.0002565455,0.00003351504,0.001237435],"genre_scores_gemma":[0.9988172,0.0001016848,0.0004614186,0.00008189564,0.00006531376,0.000006491407,0.00008756115,0.00001014112,0.0003682683],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002335465,"threshold_uncertainty_score":0.007812917,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.005226125555681482,"score_gpt":0.1950412698332888,"score_spread":0.1898151442776073,"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."}}