{"id":"W4213283092","doi":"10.1093/brain/awac074","title":"Bi-allelic variants in <i>CHKA</i> cause a neurodevelopmental disorder with epilepsy and microcephaly","year":2022,"lang":"en","type":"article","venue":"Brain","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":14,"is_retracted":false,"has_abstract":true,"ca_institutions":"Dalhousie University","funders":"National Institute of Neurological Disorders and Stroke; UCLH Biomedical Research Centre; Medical Research Council; National Institute for Health and Care Research; Canadian Institutes of Health Research; National Institutes of Health; University College London; Wellcome Trust","keywords":"Microcephaly; Epilepsy; Muscular dystrophy; Genetics; Biology; Hereditary spastic paraplegia; Neurodevelopmental disorder; Spasticity; Allele; Gene; Neuroscience; Medicine; Phenotype","routes":{"ca_aff":true,"ca_fund":true,"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":[0.0001328228,0.00125171,0.0002562296,0.0009202163,0.0005049208,0.000276229,0.0003138213,0.0005418569,0.002185224],"category_scores_gemma":[0.0003960087,0.0001863336,0.0002795706,0.0005701584,0.0005086598,0.0001937245,0.0006071849,0.0004818003,0.0002992806],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003460355,"about_ca_system_score_gemma":0.0003092675,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003546306,"about_ca_topic_score_gemma":0.006030389,"domain_scores_codex":[0.9997974,0.00002053352,0.00003113694,0.00005571363,0.00005842871,0.00003687221],"domain_scores_gemma":[0.9997942,0.00003276731,0.00007270382,0.000009562632,0.00002082721,0.00006992692],"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":[0.0008953405,0.0001650913,0.1079617,0.0001861101,0.0003954663,0.1714679,0.001002862,0.0009614382,0.6956452,0.001961149,0.00128445,0.01807323],"study_design_scores_gemma":[0.0001537571,0.0006108116,0.4728329,0.0001113248,0.0004624948,0.419841,0.0008879955,0.002691309,0.09339371,0.001499424,0.007416017,0.00009929577],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9961392,0.0003345026,0.001392032,0.0002482365,0.00002886865,0.00003298756,0.0003344662,0.00005607334,0.001433698],"genre_scores_gemma":[0.9981852,0.00011988,0.0008716971,0.00008928647,0.00001480927,0.000005982551,0.0001609055,0.00001513362,0.0005371933],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003546306,"threshold_uncertainty_score":0.007310331,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.004501302924502096,"score_gpt":0.2004505072318939,"score_spread":0.1959492043073918,"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."}}