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Diseases

Genetic and Rare Diseases Information Center (GARD)

X-linked periventricular heterotopia


Other Names for this Disease
  • Heterotopia periventricular X-linked dominant
  • Periventricular nodular heterotopia 1
  • Heterotopia familial nodular
  • Nodular heterotopia bilateral periventricular
  • NHBP
Related Diseases
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Treatment

Newline Maker

How might X-linked periventricular heterotopia be treated?

The treatment of X-linked periventricular heterotopia is symptomatic and supportive. Seizures may be controlled through standard methods, with carbamazepine most often the drug of choice (as most seizures are focal). However, anti-epileptic drugs should be selected based on attributes such as side effects, tolerability, and efficacy. It is recommended that individuals with X-linked periventricular heterotopia undergo carotid and abdominal ultrasound surveillance studies for aortic and carotid dissection and echocardiograms to monitor valvular abnormalities.[1] 
Last updated: 12/14/2009

References
  1. Sheen VL, Bodell A & Walsh CA. X-Linked Periventricular Heterotopia. GeneReviews. June 4, 2009; http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=x-pvh. Accessed 8/7/2015.


GARD Video Tutorial

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Management Guidelines

  • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.

Clinical Trials & Research for this Disease

  • The Christopher A. Walsh Laboratory is interested in the development of the cerebral cortex. Abnormal development of the cerebral cortex in humans results in epilepsy, autism, mental retardation, dyslexia, and other learning disorders, and perhaps some psychiatric conditions as well. Several of their projects are directed at trying to understand the basic biology of the cortex by studying the mutations that disturb its development. Conditions that they are currently researching include: double cortex syndrome, periventricular heterotopia, schizencephaly, perisylvian polymicrogyria and Walker Warburg syndrome. Click on the link above to access further information about this research.

  • The Cortical Foundation provides information on participating in research for cortical malformations of the brain.
  • The Research Portfolio Online Reporting Tool (RePORT) provides access to reports, data, and analyses of research activities at the National Institutes of Health (NIH), including information on NIH expenditures and the results of NIH-supported research. Although these projects may not conduct studies on humans, you may want to contact the investigators to learn more. To search for studies, enter the disease name in the "Text Search" box. Then click "Submit Query".
Other Names for this Disease
  • Heterotopia periventricular X-linked dominant
  • Periventricular nodular heterotopia 1
  • Heterotopia familial nodular
  • Nodular heterotopia bilateral periventricular
  • NHBP
Related Diseases
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.