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X-linked periventricular heterotopia
Other Names for this Disease
- Bilateral periventricular nodular heterotopia
- Heterotopia familial nodular
- Heterotopia periventricular X-linked dominant
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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. Intelligence is usually normal, although mild intellectual disability including difficulty with reading and spelling may occur. Individuals appear to be at increased risk for stroke and other vascular/coagulation problems. X-linked periventricular heterotopia is caused by mutations in the FLNA gene. It is inherited in an X-linked dominant fashion.X-linked periventricular heterotopia, a
Last updated: 12/15/2009
- 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.
- Periventricular heterotopia. Genetics Home Reference (GHR). 2007; http://ghr.nlm.nih.gov/condition=periventricularheterotopia. Accessed 12/14/2009.
- Genetics Home Reference (GHR) contains information on X-linked periventricular heterotopia. This website is maintained by the National Library of Medicine.
- The National Institute of Neurological Disorders and Stroke (NINDS) collects and disseminates research information related to neurological disorders. Click on the link to view information on this topic.
In Depth Information
- 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.