{"id":"W1520776935","doi":"10.1111/j.1528-1167.2010.02692.x","title":"Novel mutations in <i>EPM2A</i> and <i>NHLRC1</i> widen the spectrum of Lafora disease","year":2010,"lang":"en","type":"article","venue":"Epilepsia","topic":"Glycogen Storage Diseases and Myoclonus","field":"Medicine","cited_by":48,"is_retracted":false,"has_abstract":true,"ca_institutions":"Child, Adolescent and Family Mental Health","funders":"","keywords":"Lafora disease; Progressive myoclonus epilepsy; Exon; Medicine; Genetics; Epilepsy; Mutation; Myoclonus; Age of onset; Internal medicine; Disease; Biology; Gene; 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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001283677,0.0001054697,0.0001765903,0.00006181876,0.00005421474,0.00001354696,0.00008390442,0.00004068795,0.0001209176],"category_scores_gemma":[0.0001646425,0.00007420304,0.00007364486,0.0001784734,0.0001620667,0.00006372081,0.00004076892,0.0002154816,0.00001625058],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000009351719,"about_ca_system_score_gemma":0.0001130426,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0002288604,"about_ca_topic_score_gemma":0.0001599053,"domain_scores_codex":[0.9992548,0.0000134582,0.0002047151,0.0001777509,0.0001668386,0.00018243],"domain_scores_gemma":[0.999278,0.00008860424,0.0000647998,0.0003322978,0.00003714757,0.0001991602],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.002119991,0.002895398,0.6740978,0.0007105691,0.0002726662,0.007156152,0.003214994,0.00007332253,0.212232,0.06967159,0.01620695,0.01134861],"study_design_scores_gemma":[0.003451706,0.0001569485,0.9620284,0.0001175378,0.0003645906,0.0006437419,0.0004223957,0.0007679994,0.001899017,0.002364069,0.0275291,0.0002544278],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9923783,0.0003996486,0.0001067036,0.004920772,0.0001935705,0.0003567392,0.00008238055,0.00002175848,0.001540145],"genre_scores_gemma":[0.9981504,0.00003585697,0.0003786785,0.0009014315,0.0001281666,0.00002569058,0.00003265863,0.00001637757,0.0003307564],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.2879307,"threshold_uncertainty_score":0.3025912,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.008436994201042701,"score_gpt":0.2490095799750969,"score_spread":0.2405725857740542,"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."}}