{"id":"W4310954210","doi":"10.1093/brain/awac461","title":"Variants in <i>CLDN5</i> cause a syndrome characterized by seizures, microcephaly and brain calcifications","year":2022,"lang":"en","type":"article","venue":"Brain","topic":"Glycogen Storage Diseases and Myoclonus","field":"Medicine","cited_by":32,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Toronto; McMaster University; Hospital for Sick Children","funders":"European Regional Development Fund; Région Normandie","keywords":"Microcephaly; Epilepsy; Medicine; Pathology; Pediatrics; Psychiatry","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":[0.0001261424,0.001696866,0.0003163687,0.0007129996,0.0004844021,0.0002508424,0.0003727073,0.0006435108,0.002335973],"category_scores_gemma":[0.0005125915,0.0001867256,0.0004187099,0.0004614844,0.0007611187,0.0001970551,0.0005168942,0.000397475,0.0002496813],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000352703,"about_ca_system_score_gemma":0.0002722036,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003165031,"about_ca_topic_score_gemma":0.005363413,"domain_scores_codex":[0.9997937,0.00002159938,0.00003266044,0.00007464279,0.00004871294,0.00002866621],"domain_scores_gemma":[0.9998011,0.00004575545,0.00008398911,0.00001007256,0.0000113791,0.00004775935],"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":[0.0007928176,0.0001599282,0.1015859,0.0002931271,0.0005101481,0.2868153,0.001645343,0.001499636,0.5782724,0.002668884,0.001537602,0.02421889],"study_design_scores_gemma":[0.0002009851,0.0008827082,0.3352932,0.0001496718,0.0005669085,0.5479964,0.0007797037,0.002569251,0.09758785,0.001293793,0.01257497,0.0001045629],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9948558,0.000401747,0.002483613,0.0001041318,0.0000254096,0.00003686105,0.0004566596,0.00008710507,0.001548778],"genre_scores_gemma":[0.9976005,0.0001521844,0.001216328,0.00007110475,0.00001502063,0.00001007777,0.0002961314,0.00002116899,0.0006176265],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003165031,"threshold_uncertainty_score":0.007814586,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01170747571276618,"score_gpt":0.256194400394067,"score_spread":0.2444869246813008,"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."}}