{"id":"W4405644516","doi":"10.1002/mds.30087","title":"The First Case of Autosomal Recessive Cerebellar Ataxia with Prominent Paroxysmal Non‐kinesigenic Dyskinesia Caused by a Truncating <scp>FGF14</scp> Variant in a Turkish Patient","year":2024,"lang":"en","type":"article","venue":"Movement Disorders","topic":"Genetic Neurodegenerative Diseases","field":"Neuroscience","cited_by":2,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University; Montreal Neurological Institute and Hospital","funders":"National Institute of Neurological Disorders and Stroke; UCLH Biomedical Research Centre; Medical Research Council; Canadian Institutes of Health Research; National Institutes of Health; Koç Üniversitesi Translasyonel Tıp Araştırma Merkezi; University College London Hospitals NHS Foundation Trust; Wellcome Trust","keywords":"Paroxysmal dyskinesia; Ataxia; Dyskinesia; Cerebellar ataxia; Movement disorders; Medicine; Dystonia; Genetics; Choreoathetosis; Exome sequencing; Psychology; Mutation; Psychiatry; Biology; Internal medicine; Gene; Parkinson's disease","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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001824532,0.002031594,0.0007630832,0.001007671,0.001395382,0.000638371,0.0008566252,0.002207682,0.001821705],"category_scores_gemma":[0.00129136,0.0005323848,0.0006865548,0.0007823936,0.0008701502,0.0005737708,0.0009479722,0.0007701303,0.0006865489],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0005937489,"about_ca_system_score_gemma":0.0006479365,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003660817,"about_ca_topic_score_gemma":0.003344784,"domain_scores_codex":[0.9996221,0.00003184185,0.00005707386,0.0001379189,0.00004615296,0.0001049144],"domain_scores_gemma":[0.9992654,0.0001594846,0.0001945067,0.00005637708,0.00008148566,0.0002428114],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"case_report","study_design_scores_codex":[0.00005089386,0.00003394082,0.01249772,0.0000353837,0.00002133984,0.9794392,0.000329477,0.0001052804,0.005016684,0.0001617348,0.0003677327,0.001940543],"study_design_scores_gemma":[0.00001234035,0.00009887019,0.01224311,0.000006982058,0.00002140297,0.9859969,0.00008027839,0.0001730033,0.0008131619,0.00005815129,0.0004813717,0.0000143975],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9942842,0.0006471639,0.001332698,0.000459488,0.00008160658,0.00005715391,0.000241951,0.0001156167,0.002780079],"genre_scores_gemma":[0.9983676,0.0001406156,0.0005280474,0.0001621718,0.0000448266,0.000009621888,0.00008021724,0.00001995928,0.0006468197],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003660817,"threshold_uncertainty_score":0.007279038,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.00758611311540525,"score_gpt":0.2194217994628156,"score_spread":0.2118356863474104,"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."}}