KEGG   DISEASE: Polyhydramnios, megalencephaly, and symptomatic epilepsyHelp
Entry
H01112                      Disease                                

Name
Polyhydramnios, megalencephaly, and symptomatic epilepsy;
PMSE syndrome
Description
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.
Category
Congenital malformation
Brite
Human diseases [BR:br08402]
 Congenital malformations
  Congenital malformations of the nervous system
   H01112  Polyhydramnios, megalencephaly, and symptomatic epilepsy
BRITE hierarchy
Pathway
hsa04150  mTOR signaling pathway
Gene
STRADA [HSA:92335] [KO:K08271]
Other DBs
MeSH: C567020
OMIM: 611087
Reference
PMID:21263450 (description, gene)
  Authors
Goodarzi MO, Dumesic DA, Chazenbalk G, Azziz R
  Title
Polycystic ovary syndrome: etiology, pathogenesis and diagnosis.
  Journal
Nat Rev Endocrinol 7:219-31 (2011)
DOI:10.1038/nrendo.2010.217
Reference
PMID:20424320 (description, gene)
  Authors
Osborne LR
  Title
Caveat mTOR: aberrant signaling disrupts corticogenesis.
  Journal
J Clin Invest 120:1392-5 (2010)
DOI:10.1172/JCI43030
Reference
PMID:19513107 (description, gene)
  Authors
Zeqiraj E, Filippi BM, Goldie S, Navratilova I, Boudeau J, Deak M, Alessi DR, van Aalten DM
  Title
ATP and MO25alpha regulate the conformational state of the STRADalpha pseudokinase and activation of the LKB1 tumour suppressor.
  Journal
PLoS Biol 7:e1000126 (2009)
DOI:10.1371/journal.pbio.1000126

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