{"id":"W4413367173","doi":"10.18295/2075-0528.2906","title":"Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay with Early-Onset Epilepsy and Novel Clinical Features: <i>A rare entity from Morocco in the Middle East and North Africa region</i>","year":2025,"lang":"en","type":"article","venue":"Sultan Qaboos University medical journal","topic":"Genetic Neurodegenerative Diseases","field":"Neuroscience","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"","keywords":"Medicine; Epilepsy; Ataxia; Middle East; Pediatrics; Psychiatry; Geography","routes":{"ca_aff":false,"ca_fund":false,"ca_venue":false,"about_ca":true,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001254807,0.001001296,0.0003938024,0.0007137916,0.0008046121,0.0005330789,0.0003660805,0.0008211115,0.0009246728],"category_scores_gemma":[0.0007456949,0.0001862853,0.0001974795,0.0004397545,0.0006152578,0.0003261968,0.0006279007,0.0004119402,0.0001806801],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0005805989,"about_ca_system_score_gemma":0.000419371,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.005566809,"about_ca_topic_score_gemma":0.00909633,"domain_scores_codex":[0.9998568,0.00001828161,0.00001783929,0.00003762034,0.0000183291,0.00005096108],"domain_scores_gemma":[0.9996707,0.00006960128,0.0001342712,0.00001382654,0.00002892128,0.00008256737],"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":[0.00004926143,0.00001881268,0.03762972,0.00003533037,0.00001121778,0.9557843,0.0003750953,0.00008067243,0.003405616,0.0001910745,0.0001785885,0.002240386],"study_design_scores_gemma":[0.000008681303,0.00006801033,0.04429816,0.00002155208,0.00001589806,0.9534944,0.000268695,0.0001806905,0.0007191605,0.0001045699,0.0008104445,0.000009726057],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9961541,0.001069316,0.0003590707,0.0003155312,0.00003052125,0.00001860513,0.0000693091,0.00002262978,0.001960896],"genre_scores_gemma":[0.9991441,0.0002240239,0.0001936671,0.00009017891,0.00003407147,0.000003017861,0.00002941736,0.000003062346,0.0002784953],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.005566809,"threshold_uncertainty_score":0.01106882,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0419749541548719,"score_gpt":0.2406178982727733,"score_spread":0.1986429441179014,"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."}}