{"id":"W2576230061","doi":"10.1111/epi.13649","title":"De novo <i><scp>SCN</scp>1A</i> pathogenic variants in the <scp>GEFS</scp>+ spectrum: Not always a familial syndrome","year":2017,"lang":"en","type":"article","venue":"Epilepsia","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":37,"is_retracted":false,"has_abstract":true,"ca_institutions":"Alberta Children's Hospital; University of Calgary","funders":"National Health and Medical Research Council","keywords":"Genetics; Medicine; Neuroscience; Biology","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":[0.0001390776,0.0005932191,0.0002201869,0.0006478424,0.0003188113,0.0002533109,0.00019276,0.0003736549,0.001773094],"category_scores_gemma":[0.0007644861,0.0001370561,0.0002187967,0.0003861293,0.0004585085,0.0001918955,0.0003248515,0.0002802922,0.0003114883],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001435124,"about_ca_system_score_gemma":0.000166862,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001244553,"about_ca_topic_score_gemma":0.001467359,"domain_scores_codex":[0.9998197,0.00002059146,0.00002946784,0.00005314449,0.00004455795,0.00003262735],"domain_scores_gemma":[0.9996766,0.00008259684,0.000110395,0.00002507437,0.00003141796,0.00007393251],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0004383767,0.00009539031,0.465129,0.0001232105,0.0001542719,0.3538793,0.001066124,0.0006540632,0.1528441,0.001188116,0.001304038,0.0231239],"study_design_scores_gemma":[0.00003037804,0.0001817443,0.3548517,0.00003926404,0.0001033768,0.6218589,0.0003031205,0.0007328535,0.01837253,0.0005917974,0.002909151,0.00002506264],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9959682,0.0003407518,0.001075552,0.00009926227,0.00001548755,0.0000163332,0.0001717401,0.00003188406,0.002280944],"genre_scores_gemma":[0.9989742,0.000127079,0.0004954142,0.00004358887,0.0000167845,0.000003673042,0.0001034534,0.00001023932,0.0002256073],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001773094,"threshold_uncertainty_score":0.005931556,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01147616388781819,"score_gpt":0.2361185129433884,"score_spread":0.2246423490555702,"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."}}