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X-linked malformations of neuronal migration.

Publication ,  Journal Article
Dobyns, WB; Andermann, E; Andermann, F; Czapansky-Beilman, D; Dubeau, F; Dulac, O; Guerrini, R; Hirsch, B; Ledbetter, DH; Lee, NS; Motte, J ...
Published in: Neurology
August 1996

Malformations of neuronal migration such as lissencephaly (agyria-pachygyria spectrum) are well-known causes of mental retardation and epilepsy that are often genetic. For example, isolated lissencephaly sequence and Miller-Dieker syndrome are caused by deletions involving a lissencephaly gene in chromosome 17p13.3, while many other malformation syndromes have autosomal recessive inheritance. In this paper, we review evidence supporting the existence of two distinct X-linked malformations of neuronal migration. X-linked lissencephaly and subcortical band heterotopia (XLIS) presents with sporadic or familial mental retardation and epilepsy. The brain malformation varies from classical lissencephaly, which is observed in males, to subcortical band heterotopia, which is observed primarily in females. The XLIS gene is located in chromosome Xq22.3 based on the breakpoint of an X-autosomal translocation. Bilateral periventricular nodular heterotopia (BPNH) usually presents with sporadic or familial epilepsy with normal intelligence, primarily in females, although we have evaluated two boys with BPNH and severe mental retardation. The gene for BPNH has been mapped to chromosome Xq28 based on linkage studies in multiplex families and observation of a subtle structural abnormality in one of the boys with BPNH and severe mental retardation.

Duke Scholars

Published In

Neurology

DOI

ISSN

0028-3878

Publication Date

August 1996

Volume

47

Issue

2

Start / End Page

331 / 339

Location

United States

Related Subject Headings

  • X Chromosome
  • Pedigree
  • Neurons
  • Neurology & Neurosurgery
  • Male
  • Magnetic Resonance Imaging
  • Infant
  • Humans
  • Genetic Linkage
  • Female
 

Citation

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Dobyns, W. B., Andermann, E., Andermann, F., Czapansky-Beilman, D., Dubeau, F., Dulac, O., … Truwit, C. L. (1996). X-linked malformations of neuronal migration. Neurology, 47(2), 331–339. https://doi.org/10.1212/wnl.47.2.331
Dobyns, W. B., E. Andermann, F. Andermann, D. Czapansky-Beilman, F. Dubeau, O. Dulac, R. Guerrini, et al. “X-linked malformations of neuronal migration.Neurology 47, no. 2 (August 1996): 331–39. https://doi.org/10.1212/wnl.47.2.331.
Dobyns WB, Andermann E, Andermann F, Czapansky-Beilman D, Dubeau F, Dulac O, et al. X-linked malformations of neuronal migration. Neurology. 1996 Aug;47(2):331–9.
Dobyns, W. B., et al. “X-linked malformations of neuronal migration.Neurology, vol. 47, no. 2, Aug. 1996, pp. 331–39. Pubmed, doi:10.1212/wnl.47.2.331.
Dobyns WB, Andermann E, Andermann F, Czapansky-Beilman D, Dubeau F, Dulac O, Guerrini R, Hirsch B, Ledbetter DH, Lee NS, Motte J, Pinard JM, Radtke RA, Ross ME, Tampieri D, Walsh CA, Truwit CL. X-linked malformations of neuronal migration. Neurology. 1996 Aug;47(2):331–339.

Published In

Neurology

DOI

ISSN

0028-3878

Publication Date

August 1996

Volume

47

Issue

2

Start / End Page

331 / 339

Location

United States

Related Subject Headings

  • X Chromosome
  • Pedigree
  • Neurons
  • Neurology & Neurosurgery
  • Male
  • Magnetic Resonance Imaging
  • Infant
  • Humans
  • Genetic Linkage
  • Female