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X-linked malformations of neuronal migration

W B Dobyns1, E Andermann, F Andermann

  • 1Department of Neurology, University of Minnesota Medical School, Minneapolis, USA.

Neurology
|August 1, 1996
PubMed
Summary

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Two X-linked disorders, X-linked lissencephaly and subcortical band heterotopia (XLIS) and bilateral periventricular nodular heterotopia (BPNH), cause brain malformations, mental retardation, and epilepsy.

Area of Science:

  • Neuroscience
  • Genetics
  • Developmental Biology

Background:

  • Malformations of neuronal migration, such as lissencephaly, are genetic causes of intellectual disability and epilepsy.
  • X-linked inheritance patterns are implicated in specific neuronal migration disorders.

Purpose of the Study:

  • To review evidence for two distinct X-linked malformations of neuronal migration.
  • To discuss the genetic loci and clinical presentations of these disorders.

Main Methods:

  • Review of existing literature and case studies.
  • Analysis of genetic mapping data including X-autosomal translocations and linkage studies.
  • Clinical evaluation of patients with neuronal migration defects.

Main Results:

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  • X-linked lissencephaly and subcortical band heterotopia (XLIS) is associated with chromosome Xq22.3 and presents with varying severity in males and females.
  • Bilateral periventricular nodular heterotopia (BPNH) is mapped to chromosome Xq28 and typically presents with epilepsy in females, but can cause severe intellectual disability.

Conclusions:

  • Two distinct X-linked neuronal migration disorders, XLIS and BPNH, are identified with specific genetic localizations.
  • These disorders contribute to the spectrum of neurodevelopmental conditions including epilepsy and intellectual disability.