STXBP1 and infantile spasms: We included the association of “Status epilepticus” (HP:0002133) with SCN1A, “Severe intellectual disability” (HP:0010864) with PURA, and “Infantile spasms” (HP:0012469) with STXBP1. We excluded the association of “Epileptic spasms” (HP:0011097) with STXBP1 as this phenotypic term is the direct parent term of “Infantile spasms” (HP:0012469) and therefore added no additional information.