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Keywords: Patient registry
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Journal Articles

Machine learning models reveal distinct disease subgroups and improve diagnostic and prognostic accuracy for individuals with pathogenic SCN8A gain-of-function variants

Joshua B. Hack, Joseph C. Watkins, Michael F. Hammer
Journal: Biology Open
Biol Open (2024) 13 (4): bio060286.
https://doi.org/10.1242/bio.060286
Published: 24 April 2024
... substantial clinical heterogeneity, viewed historically as a linear spectrum ranging from mild to severe. To test for hidden clinical subgroups, we applied two machine-learning algorithms to analyze a dataset of patient features collected by the International SCN8A Patient Registry. We used two research...
View articletitled, Machine learning models reveal distinct disease subgroups and improve diagnostic and prognostic accuracy for individuals with pathogenic SCN8A gain-of-function variants
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Includes: Supplementary data