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Mental Disorders > Neurodevelopmental Disorders > Intellectual Disability > Mental Retardation, X-Linked > Classical Lissencephalies and Subcortical Band Heterotopias

Preferred term

Classical Lissencephalies and Subcortical Band Heterotopias  

Type

  • Topical Descriptor

Entry terms

  • Agyria Pachygyria Band Spectrum
  • Agyria-Pachygyria-Band Spectrum
  • Band Heterotopia, Lissencephaly-Subcortical
  • Heterotopia, Lissencephaly-Subcortical Band
  • Heterotopias, Lissencephaly-Subcortical Band
  • Lissencephaly Subcortical Band Heterotopia
  • Lissencephaly-Subcortical Band Heterotopia
  • Lissencephaly-Subcortical Band Heterotopias

Scope note

  • Disorders comprising a spectrum of brain malformations representing the paradigm of a diffuse neuronal migration disorder. They result in cognitive impairment; SEIZURES; and HYPOTONIA or spasticity. Mutations of two genes, LIS1, the gene for the non-catalytic subunit of PLATELET-ACTIVATING FACTOR ACETYLHYDROLASE IB; and DCX or XLIS, the gene for doublecortin, have been identified as the most common causes of disorders in this spectrum. Additional variants of classical (Type I) lissencephaly have been linked to RELN, the gene for reelin, and ARX, the gene for aristaless related homeobox protein. (From Leventer, R.J., et al, Mol Med Today. 2000 Jul;6(7):277-84 and Barkovich, A.J., et al, Neurology. 2005 Dec 27;65(12):1873-87.)

History note

  • 2008

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URI

http://www.yso.fi/onto/mesh/D054221

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