Polyhydramnios, megalencephaly, and symptomatic epilepsy
Definition:
Polyhydramnios, megalencephaly, symptomatic epilepsy (PMSE) is a severe human developmental and epileptic syndrome caused by a homozygous partial deletion in the STRAD-alpha gene (LYK5), truncating 180 C-terminal residues of the protein. Individuals affected by this condition suffer from severe mental retardation, gross movement disorders, and childhood mortality. Severe intractable epilepsy and megalencephaly are characteristic.
References:
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[1]. Mark O Goodarzi, et al. Polycystic ovary syndrome: etiology, pathogenesis and diagnosis. Nat Rev Endocrinol. 2011 Apr;7(4):219-31. [Content Brief]
[2]. Mio Aerden, et al. Homozygous missense STRADA mutation in a patient with polyhydramnios, megalencephaly and symptomatic epilepsy syndrome. Clin Dysmorphol. 2021 Jul 1;30(3):121-124. [Content Brief]
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