{"id":"W3036169891","doi":"10.31487/j.gg.2020.01.02","title":"A Case Series and Review of CDKL5 Deficiency Disorder: More than Rett","year":2020,"lang":"en","type":"article","venue":"","topic":"Genetics and Neurodevelopmental Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":1,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Manitoba; Alberta Children's Hospital; University of Calgary","funders":"","keywords":"Rett syndrome; MECP2; Encephalopathy; Neurodevelopmental disorder; Disease; Epilepsy; Phenotype; Medicine; Pediatrics; Neuroscience; Psychology; Genetics; Biology; Psychiatry; Pathology; Gene; Autism","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":[0.0003647469,0.00174814,0.001710245,0.008737951,0.001271306,0.001936146,0.001687542,0.002900666,0.004199525],"category_scores_gemma":[0.002172331,0.0006367019,0.001094433,0.006566799,0.001630102,0.00237215,0.001381766,0.001971959,0.003324462],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0009192633,"about_ca_system_score_gemma":0.0009818353,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001191463,"about_ca_topic_score_gemma":0.001960023,"domain_scores_codex":[0.9990451,0.0001045168,0.0003026294,0.0002630323,0.0001472068,0.0001375219],"domain_scores_gemma":[0.9981262,0.0005742025,0.000565671,0.0001640921,0.0001875167,0.0003823068],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"case_report","study_design_scores_codex":[0.00006482423,0.0001173492,0.01250886,0.001818114,0.0001652855,0.9005931,0.0006932006,0.0002578587,0.002643014,0.0007922085,0.01808169,0.06226448],"study_design_scores_gemma":[0.000005195785,0.00001736985,0.002883243,0.0002086312,0.00004748056,0.9776838,0.0001457827,0.00005164136,0.0002091946,0.0001481828,0.01858214,0.00001743923],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"review","genre_gemma":"empirical","genre_scores_codex":[0.1416073,0.8156636,0.00542564,0.00639279,0.005460604,0.0002441025,0.0008358457,0.00043909,0.02393109],"genre_scores_gemma":[0.502731,0.4569743,0.004466991,0.007962209,0.01512329,0.0001722559,0.001188678,0.000236394,0.01114492],"genre_candidate":"empirical","genre_consensus":null,"teacher_disagreement_score":0.008737951,"threshold_uncertainty_score":0.01404881,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01119199262809361,"score_gpt":0.2302610265754882,"score_spread":0.2190690339473946,"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."}}