{"id":"W3126948517","doi":"10.1186/s13041-021-00745-2","title":"The de novo CACNA1A pathogenic variant Y1384C associated with hemiplegic migraine, early onset cerebellar atrophy and developmental delay leads to a loss of Cav2.1 channel function","year":2021,"lang":"en","type":"article","venue":"Molecular Brain","topic":"Ion channel regulation and function","field":"Biochemistry, Genetics and Molecular Biology","cited_by":19,"is_retracted":false,"has_abstract":true,"ca_institutions":"Alberta Children's Hospital; University of Calgary","funders":"Canadian Institutes of Health Research; Canada Excellence Research Chairs, Government of Canada","keywords":"Familial hemiplegic migraine; Missense mutation; Loss function; Atrophy; Neuroscience; Mutation; Biology; Genetics; Medicine; Internal medicine; Migraine with aura; Gene; Migraine; Phenotype","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":[0.0001346145,0.001670429,0.0005392349,0.001013918,0.0005497207,0.000256299,0.0005116406,0.001676475,0.003209331],"category_scores_gemma":[0.0006867563,0.0002323064,0.0004655879,0.000500498,0.0007218727,0.0001834192,0.0003767713,0.0006715725,0.0005529841],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004183119,"about_ca_system_score_gemma":0.0004340351,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00237494,"about_ca_topic_score_gemma":0.001947558,"domain_scores_codex":[0.9997711,0.00002387639,0.00002506751,0.00007961098,0.0000545502,0.00004582002],"domain_scores_gemma":[0.999652,0.00008915125,0.0001035983,0.00001758466,0.00003390208,0.0001037813],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.0009675891,0.0003310884,0.03365498,0.0001398038,0.0001719206,0.6273426,0.0004203213,0.0005085453,0.3269882,0.0008036925,0.00121377,0.007457458],"study_design_scores_gemma":[0.0003291136,0.0009568181,0.1676673,0.00006479624,0.0002632433,0.7571579,0.0002510529,0.00282842,0.06512249,0.0009833411,0.00430106,0.00007449493],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9973052,0.0002633645,0.0008014598,0.0002246651,0.00009312585,0.00003341433,0.0002602314,0.00004509362,0.000973569],"genre_scores_gemma":[0.9983504,0.00009824729,0.0003961409,0.00008248625,0.00006511008,0.00001331235,0.0001638541,0.0000155729,0.0008149622],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003209331,"threshold_uncertainty_score":0.01073623,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.005653081837439473,"score_gpt":0.197759856101714,"score_spread":0.1921067742642745,"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."}}