STXBP1 and Epileptic spasm: Four associations were significant after multiple testing, including “Status epilepticus” (HP:0002133; p = 1.84e−7) with SCN1A at 1.0 years, “Severe intellectual disability” (HP:0010864; p = 2.96e−6) with PURA at 9.75 years, and “Infantile spasms” (HP:0012469; p = 2.85e−5) and “Epileptic spasms” (HP:0011097; p = 3.54e−5) with STXBP1 at 0.5 years.