Gene-specific machine learning model EpiPred identifies likely pathogenic variants in the epilepsy-related gene STXBP1.
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| Title: | Gene-specific machine learning model EpiPred identifies likely pathogenic variants in the epilepsy-related gene STXBP1. |
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| Authors: | Calhoun JD; Ken and Ruth Davee Department of Neurology, Northwestern Feinberg School of Medicine, Chicago, Illinois, USA., Wang C; Center for Neurogenetics, Feil Family Brain and Mind Research Institute, Weill Cornell Medicine, New York, New York, USA., Biar CG; Ken and Ruth Davee Department of Neurology, Northwestern Feinberg School of Medicine, Chicago, Illinois, USA., Gunti JR; Ken and Ruth Davee Department of Neurology, Northwestern Feinberg School of Medicine, Chicago, Illinois, USA., Lee JS; Northwestern IT Research Computing and Data Services, Evanston, Illinois, USA., Geller AM; Northwestern IT Research Computing and Data Services, Evanston, Illinois, USA., Hong JH; Ken and Ruth Davee Department of Neurology, Northwestern Feinberg School of Medicine, Chicago, Illinois, USA., Schnell S; Departments of Mathematics, Biochemistry & Cell Biology and Biomedical Data Science, Dartmouth College, Hanover, New Hampshire, USA., Dang LT; Department of Pediatrics., Wang Y; Department of Neurology., Parent JM; Department of Neurology., Isom LL; Department of Neurology.; Department of Pharmacology, and., Uhler MD; Department of Biological Chemistry and Molecular Neuroscience Institute, University of Michigan, Ann Arbor, Michigan, USA., Mefford HC; Center for Pediatric Neurological Disease Research, St. Jude Children's Research Hospital, Memphis, Tennessee, USA., Ross ME; Center for Neurogenetics, Feil Family Brain and Mind Research Institute, Weill Cornell Medicine, New York, New York, USA., Aguiar-Pulido V; Center for Neurogenetics, Feil Family Brain and Mind Research Institute, Weill Cornell Medicine, New York, New York, USA.; Department of Computer Science, University of Miami, Miami, Florida, USA., Carvill GL; Ken and Ruth Davee Department of Neurology, Northwestern Feinberg School of Medicine, Chicago, Illinois, USA.; Department of Pharmacology, Northwestern Feinberg School of Medicine, Chicago, Illinois, USA. |
| Source: | The Journal of clinical investigation [J Clin Invest] 2026 Sep 17; Vol. 136 (21). Date of Electronic Publication: 2026 Sep 17 (Print Publication: 2026). |
| Publication Type: | Journal Article |
| Journal Info: | Publisher: American Society for Clinical Investigation Country of Publication: United States NLM ID: 7802877 Publication Model: eCollection Cited Medium: Internet ISSN: 1558-8238 (Electronic) Linking ISSN: 00219738 NLM ISO Abbreviation: J Clin Invest Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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