A 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

Abstract

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.