{"id":"W2129668197","doi":"10.1016/j.eplepsyres.2009.09.010","title":"Genome wide high density SNP-based linkage analysis of childhood absence epilepsy identifies a susceptibility locus on chromosome 3p23-p14","year":2009,"lang":"en","type":"article","venue":"Epilepsy Research","topic":"Genetics and Neurodevelopmental Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":33,"is_retracted":false,"has_abstract":true,"ca_institutions":"Izaak Walton Killam Health Centre; Dalhousie University","funders":"National Institute of Neurological Disorders and Stroke; Medical Research Council; ZonMw; Epilepsy Research UK; Action Medical Research; Epilepsiefonds; Wellcome Trust","keywords":"Genetics; Epilepsy; Single-nucleotide polymorphism; Genetic linkage; Locus (genetics); Tag SNP; Genome Scan; SNP; Idiopathic generalized epilepsy; Candidate gene; Pedigree chart; Locus heterogeneity; Biology; SNP array; Ictal; Childhood absence epilepsy; Gene; Genetic heterogeneity; Genotype; Allele; Neuroscience; Phenotype; Microsatellite","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":[0.0004504489,0.0003872762,0.0003752456,0.001151641,0.0003527398,0.0003094663,0.0003151646,0.0003058025,0.001535506],"category_scores_gemma":[0.001408238,0.0002114,0.0002872767,0.001054111,0.0003381233,0.000067032,0.0004494123,0.0004087505,0.000186737],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002772236,"about_ca_system_score_gemma":0.0003297617,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.004777584,"about_ca_topic_score_gemma":0.007073501,"domain_scores_codex":[0.9995315,0.0001522665,0.00002025264,0.0001114656,0.0001406352,0.00004387735],"domain_scores_gemma":[0.9996137,0.0001878936,0.000093459,0.00002430143,0.00003579448,0.00004494521],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.003515425,0.0005817118,0.6659995,0.0002481478,0.001978843,0.01359119,0.001001745,0.007375531,0.1866286,0.001962868,0.002026582,0.11509],"study_design_scores_gemma":[0.0001647896,0.0003876042,0.978105,0.00002145662,0.0002800123,0.007613686,0.0001318018,0.003613601,0.00715169,0.0007280417,0.001780451,0.00002199778],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9983746,0.0002012403,0.000953244,0.00004227831,0.000002621851,0.00001073064,0.0001385326,0.00001542231,0.0002613715],"genre_scores_gemma":[0.9974192,0.0001784343,0.001757394,0.00001581848,0.00000419492,0.00002180333,0.0003425593,0.000004973668,0.0002555882],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004777584,"threshold_uncertainty_score":0.00949955,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02309577755542173,"score_gpt":0.3038890768617917,"score_spread":0.2807932993063699,"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."}}