Open AccessA formalization of one of the main claims of “Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes” by Schubert et al. 20141
Author(s) -
Valentin Grouès,
Carlos Vega,
Venkata Satagopam
Publication year - 2022
Publication title -
data science
Language(s) - English
Resource type - Journals
eISSN - 2451-8492
pISSN - 2451-8484
DOI - 10.3233/ds-210051
Subject(s) - context (archaeology) , epilepsy , class (philosophy) , mutation , genetics , neuroscience , biology , gene , computer science , paleontology , artificial intelligence
Schubert et al. claimed in previous work that mutations in STX1B are associated with epilepsy. We present here a formalization of that claim, stating that all things of class “STX1B mutation” that are in the context of a thing of class “human” frequently have a relation of type “co-occurs with” to a thing of class “epilepsy” in the same context.