{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003007005,0.0001835326,0.0001489111,0.00004743954,0.0001788798,0.00004064793,0.00008981766,0.0001447198,0.000009500297],"category_scores_gemma":[0.0002605902,0.0001537071,0.00008358462,0.0002782181,0.00007851285,0.000004840198,0.00008732065,0.00009217416,0.00000378334],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00005123167,"about_ca_system_score_gemma":0.0001964587,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00002224602,"about_ca_topic_score_gemma":0.0002166176,"domain_scores_codex":[0.9987506,0.0001694252,0.0002139439,0.0003641033,0.0002075741,0.00029441],"domain_scores_gemma":[0.9993253,0.00003536517,0.00008973997,0.000217691,0.0002114816,0.0001204357],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.0003599551,0.00008031003,0.002252335,0.00001613848,0.0001984448,0.0002178257,0.0003583232,0.0008916878,0.9942415,0.0001333426,0.0007107698,0.0005393132],"study_design_scores_gemma":[0.005321776,0.002284385,0.06031004,0.0001639655,0.0002174869,0.003283168,0.001279397,0.001725392,0.9126668,0.0003929793,0.01107454,0.001280078],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9572166,0.0003726328,0.04119813,0.0007515405,0.0001007626,0.000197089,0.00003358128,0.00001276597,0.000116878],"genre_scores_gemma":[0.9972007,0.00002187152,0.0005453614,0.0009959465,0.00006653288,0.00003011918,0.0002717658,0.00003403254,0.0008336441],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.08157477,"threshold_uncertainty_score":0.6267993,"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."}}