{"id":"W4408379066","doi":"10.1016/j.seizure.2025.03.007","title":"Novel epilepsy phenotype associated with a pathogenic GABRG2 variant","year":2025,"lang":"en","type":"letter","venue":"Seizure","topic":"Genetics and Neurodevelopmental Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":false,"ca_institutions":"Hospital for Sick Children; University of Toronto; McMaster University; SickKids Foundation","funders":"","keywords":"Epilepsy; Phenotype; Genetics; Biology; Neuroscience; Gene","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":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.00008555224,0.0004496864,0.0003195844,0.00007676952,0.0001067563,0.00004584687,0.0003938717,0.0009822105,0.00005238626],"category_scores_gemma":[0.00008988653,0.0004018443,0.0001315385,0.0002428026,0.00005788177,0.000001387767,0.0001908786,0.0006904464,0.0000181611],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002952142,"about_ca_system_score_gemma":0.0004912002,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001754841,"about_ca_topic_score_gemma":0.0001337609,"domain_scores_codex":[0.998143,0.0000624649,0.0002470358,0.0007859585,0.0002710255,0.00049053],"domain_scores_gemma":[0.999048,0.00001775564,0.0001593168,0.0005515569,0.0001675686,0.00005581845],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"not_applicable","study_design_gemma":"not_applicable","study_design_scores_codex":[0.00004475501,0.00008397454,0.00009767275,0.00006725947,0.0004151693,0.0001384638,0.00002385268,0.00002751392,0.06540222,0.000007254795,0.9332983,0.0003935727],"study_design_scores_gemma":[0.001079848,0.0003445286,0.005934701,0.0001485554,0.0001758558,0.00004909623,0.00001466004,0.00001783498,0.001587196,0.00004708143,0.9898309,0.0007698153],"study_design_candidate":"not_applicable","study_design_consensus":"not_applicable","genre_codex":"commentary","genre_gemma":"commentary","genre_scores_codex":[0.1148581,0.006960624,0.01062592,0.7783286,0.00563023,0.005215269,0.006852193,0.0004189364,0.07111012],"genre_scores_gemma":[0.09031995,0.0004872917,0.001697953,0.8548716,0.0008310095,0.0001488908,0.01602421,0.0002503387,0.0353687],"genre_candidate":"commentary","genre_consensus":"commentary","teacher_disagreement_score":0.07654307,"threshold_uncertainty_score":0.9998434,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.007329939535181892,"score_gpt":0.2005069540127112,"score_spread":0.1931770144775293,"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."}}