{"id":"W2946302012","doi":"10.1111/epi.15665","title":"Inclusion of hemimegalencephaly into the phenotypic spectrum of <i><scp>NPRL</scp>3</i> pathogenic variants in familial focal epilepsy with variable foci","year":2019,"lang":"en","type":"article","venue":"Epilepsia","topic":"Epilepsy research and treatment","field":"Medicine","cited_by":24,"is_retracted":false,"has_abstract":true,"ca_institutions":"Foothills Medical Centre; Alberta Children's Hospital; University of Calgary","funders":"Novartis Pharma; Eisai; GW Pharmaceuticals; Spectrum Pharmaceuticals; Novartis","keywords":"Hemimegalencephaly; Epilepsy; Genetics; Phenotype; Exome sequencing; Biology; Multiplex ligation-dependent probe amplification; Exon; Single-nucleotide polymorphism; Cortical dysplasia; Genotype; Gene; Neuroscience","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":[0.0002394963,0.0005116623,0.0002475992,0.0004608503,0.0002234971,0.0002852845,0.0001749763,0.0003041783,0.0010681],"category_scores_gemma":[0.0005521915,0.0001626661,0.0002486506,0.0002525173,0.0005254982,0.0001409223,0.0003720043,0.0002511825,0.00009888098],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001405767,"about_ca_system_score_gemma":0.0001546055,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0007241022,"about_ca_topic_score_gemma":0.001320931,"domain_scores_codex":[0.9998777,0.00002149024,0.00001921847,0.00003866498,0.00001895156,0.00002404081],"domain_scores_gemma":[0.999828,0.00006937953,0.00004313135,0.00001684481,0.00001314379,0.00002952758],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001093365,0.00008443682,0.6115724,0.0001278654,0.0001693299,0.0955312,0.0009072006,0.0008810467,0.2497299,0.0005647982,0.0003167646,0.03902165],"study_design_scores_gemma":[0.00005091867,0.000252748,0.8116764,0.00007362272,0.0001209468,0.1691114,0.0004049699,0.0008646608,0.01543153,0.0005999844,0.001395527,0.00001730896],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.998839,0.0001911645,0.0002363932,0.00002757129,0.000001584838,0.000005036816,0.00006825898,0.00001028638,0.0006206644],"genre_scores_gemma":[0.9994755,0.00008308097,0.0003004292,0.00002332085,0.000003433304,0.000002845446,0.00006186537,0.000002911896,0.00004661571],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.0010681,"threshold_uncertainty_score":0.00357312,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.007466622790291995,"score_gpt":0.2424359081145759,"score_spread":0.2349692853242839,"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."}}