KEGG   DISEASE: H00270Help
Entry
H00270                      Disease                                

Name
Periventricular nodular heterotopia (PVNH)
Description
Periventricular nodular heterotopia (PNH) is a malformation of neuronal migration in which a subset of neurons fails to migrate into the developing cerebral cortex and composes heterotopic nodules along the lateral ventricles.
Category
Developmental disorder; Nervous system disease
Brite
Human diseases [BR:br08402]
 Other congenital disorders
  Congenital disorders of development
   H00270  Periventricular nodular heterotopia
Human diseases in ICD-10 classification [BR:br08403]
 17. Congenital malformations, deformations and chromosomal abnormalities (Q00-Q99)
  Q00-Q07  Congenital malformations of the nervous system
   Q04  Other congenital malformations of brain
    H00270  Periventricular nodular heterotopia
BRITE hierarchy
Gene
(PVNH1/3) FLNA [HSA:2316] [KO:K04437]
(PVNH2) ARFGEF2 [HSA:10564] [KO:K18442]
Other DBs
ICD-10: 
MeSH: 
OMIM: 
Reference
  Authors
Spalice A, Parisi P, Nicita F, Pizzardi G, Del Balzo F, Iannetti P
  Title
Neuronal migration disorders: clinical, neuroradiologic and genetics aspects.
  Journal
Acta Paediatr 98:421-33 (2009)
Reference
  Authors
Sarkisian MR, Bartley CM, Rakic P
  Title
Trouble making the first move: interpreting arrested neuronal migration in the cerebral cortex.
  Journal
Trends Neurosci 31:54-61 (2008)
Reference
  Authors
Guerrini R, Marini C
  Title
Genetic malformations of cortical development.
  Journal
Exp Brain Res 173:322-33 (2006)
Reference
  Authors
Lu J, Sheen V
  Title
Periventricular heterotopia.
  Journal
Epilepsy Behav 7:143-9 (2005)

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