R script to replicate results from Brunklaus et al, 2022 paper Development and Validation of a Prediction Model for Early Diagnosis of SCN1A-related Epilepsies". Neurology. 2022 Jan 24. PMID: 35074891 DOI: 10.1212/WNL.0000000000200028
Simply run the entire R code and replicate all the results described in the manuscript. Make sure you have the input files in your local directory:
- SCN1A_Training_Cohort.txt
- SCN1A_Validation_Cohort_1.txt
- SCN1A_Validation_Cohort_2.txt
For reference, the expected results and output files are provided in the Example folder.
To directly use the prediction model please refer to the http://scn1a-prediction-model.broadinstitute.org/ webtool. Here you will be able to evaluate all possible missense and protein truncating variants found within the SCN1A gene.
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