{"id":"W2970490479","doi":"10.1111/epi.16316","title":"Both gain‐of‐function and loss‐of‐function <i> de novo <scp>CACNA</scp> 1A </i> mutations cause severe developmental epileptic encephalopathies in the spectrum of Lennox‐Gastaut syndrome","year":2019,"lang":"en","type":"article","venue":"Epilepsia","topic":"Ion channel regulation and function","field":"Biochemistry, Genetics and Molecular Biology","cited_by":95,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University; Hospital for Sick Children; Montreal Neurological Institute and Hospital; University of Calgary; Université de Montréal","funders":"Fonds de Recherche du Québec - Santé; Canadian Institutes of Health Research; Savoy Foundation","keywords":"Loss function; Mutation; Epilepsy; HEK 293 cells; Mutant; Biology; Gene; Genetics; Neuroscience; 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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003711758,0.0001534629,0.0001987103,0.0001349118,0.00005768561,0.00001092918,0.0001004814,0.0001539146,0.00003219707],"category_scores_gemma":[0.00007892134,0.0001329547,0.00007095611,0.0002518082,0.000129192,0.00002319414,0.00004265568,0.0001117403,0.00000835128],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00003056083,"about_ca_system_score_gemma":0.0001172118,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00002598825,"about_ca_topic_score_gemma":0.00004486422,"domain_scores_codex":[0.9988599,0.0001136071,0.000379057,0.0002538067,0.0001946102,0.0001989837],"domain_scores_gemma":[0.9994055,0.00007495251,0.0002186839,0.0001908258,0.00007166041,0.00003839325],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0003839366,0.0004132151,0.5262791,0.0003655025,0.0001995634,0.00001308463,0.003080744,0.004013773,0.460192,0.002624027,0.001200922,0.001234191],"study_design_scores_gemma":[0.002528934,0.00199557,0.930133,0.0001530388,0.0001166133,0.0006397447,0.006252673,0.001065313,0.0521413,0.001908913,0.002834311,0.0002305382],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9939774,0.0001720556,0.004261257,0.00005874587,0.0003330293,0.0003033333,0.000024221,0.000008951209,0.0008610397],"genre_scores_gemma":[0.9989642,0.00009936597,0.0002231882,0.0001134862,0.00006504013,0.00001972378,0.000148147,0.000016407,0.0003504622],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.4080507,"threshold_uncertainty_score":0.5421735,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.007985970377344316,"score_gpt":0.2123339394622603,"score_spread":0.204347969084916,"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."}}