KEGG   DISEASE: H01112Help
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
Developmental disorder; Nervous system disease
BRITE hierarchy
Pathway
mTOR signaling pathway
Gene
STRADA [HSA:92335] [KO:K08271]
Other DBs
MeSH: 
OMIM: 
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)
Reference
PMID:20424320 (description, gene)
  Authors
Osborne LR
  Title
Caveat mTOR: aberrant signaling disrupts corticogenesis.
  Journal
J Clin Invest 120:1392-5 (2010)
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)

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