STRADA and polyhydramnios, megalencephaly, and symptomatic epilepsy: PMSE is characterized by severe, infantile-onset intractable epilepsy, developmental delay, macrocephaly, craniofacial dysmorphism and premature mortality [108]. Homozygous single nucleotide variants and larger deletions including exons 9–13 in the LYK5/STRADA gene are associated with the STRADA phenotype.