{"id":"W3119333686","doi":"10.1111/epi.16761","title":"The phenotypic spectrum of X‐linked, infantile onset <i>ALG13</i>‐related developmental and epileptic encephalopathy","year":2021,"lang":"en","type":"article","venue":"Epilepsia","topic":"Glycosylation and Glycoproteins Research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":19,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"National Health and Medical Research Council; Medical Research Council; Sanofi Genzyme; Idorsia Pharmaceuticals; Great Ormond Street Hospital Charity; National Institute for Health and Care Research; GlaxoSmithKline; Zogenix; GW Pharmaceuticals; Vitaflo; Engineering and Physical Sciences Research Council; Abeona Therapeutics; Epilepsy Research UK; Zynerba Pharmaceuticals; Mallinckrodt Pharmaceuticals; Eisai; Waterloo Foundation; Rosetrees Trust; Sanofi","keywords":"Epilepsy; Encephalopathy; Pediatrics; Medicine; Psychology; Neuroscience; Psychiatry","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.000164504,0.0006716951,0.0002183649,0.0004476189,0.0002178676,0.0001647539,0.0001630169,0.0002961516,0.002554517],"category_scores_gemma":[0.0008442083,0.0001022386,0.0001453995,0.0002658868,0.0003689539,0.0001871234,0.0004406792,0.0001910821,0.0003410797],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001112625,"about_ca_system_score_gemma":0.0001276007,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0003011499,"about_ca_topic_score_gemma":0.0003307623,"domain_scores_codex":[0.9998296,0.00003255482,0.00002589597,0.00003597852,0.00003148891,0.00004441843],"domain_scores_gemma":[0.9997233,0.00007384752,0.0001297578,0.00001269661,0.00002020636,0.00004016514],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"case_report","study_design_scores_codex":[0.0005778454,0.0001380577,0.637485,0.0001880113,0.00008899828,0.2586122,0.0006463408,0.0003628193,0.0735977,0.0004182567,0.001050738,0.02683404],"study_design_scores_gemma":[0.00003375881,0.0003383299,0.507577,0.00004810763,0.00004215519,0.4842174,0.0003891454,0.0002240192,0.005623127,0.0002730064,0.001224381,0.000009631662],"study_design_candidate":"case_report","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9983363,0.000196366,0.0003034007,0.00004011228,0.000002653778,0.000009227522,0.00007738365,0.00001610786,0.001018553],"genre_scores_gemma":[0.9992236,0.0001308336,0.0003086537,0.00003341092,0.000009888728,0.00000665572,0.00009520908,0.000005235576,0.000186498],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002554517,"threshold_uncertainty_score":0.008545697,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.006742328794898176,"score_gpt":0.2377269759847783,"score_spread":0.2309846471898802,"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."}}