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Diseases

Genetic and Rare Diseases Information Center (GARD)

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X-linked periventricular heterotopia


Other Names for this Disease
  • Bilateral periventricular nodular heterotopia
  • BPNH
  • Heterotopia familial nodular
  • Heterotopia periventricular X-linked dominant
  • NHBP
More Names
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Overview


X-linked periventricular heterotopia, a neuronal migration disorder, is characterized by the presence of clumps or clusters of neurons near the brain's ventricles (fluid-filled cavities). Most affected individuals are females with one altered gene (heterozygotes). The condition is often lethal in males. Affected individuals experience seizures beginning in the middle teen years.[1] Intelligence is usually normal, although mild intellectual disability including difficulty with reading and spelling may occur.[2] Individuals appear to be at increased risk for stroke and other vascular/coagulation problems.[1] X-linked periventricular heterotopia is caused by mutations in the FLNA gene. It is inherited in an X-linked dominant fashion.[2]
Last updated: 12/15/2009

References

  1. Sheen VL, Bodell A, Walsh CA. X-Linked Periventricular Heterotopia. GeneReviews. 2009; http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=x-pvh. Accessed 12/14/2009.
  2. Periventricular heterotopia. Genetics Home Reference (GHR). 2007; http://ghr.nlm.nih.gov/condition=periventricularheterotopia. Accessed 12/14/2009.
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  • The Online Mendelian Inheritance in Man (OMIM) is an catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss X-linked periventricular heterotopia. Click on the link to view a sample search on this topic.