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
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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.
Last updated: 12/14/2009
- 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.
- Finding Treatment Information - A video developed by GARD Information Specialists that explains how you can find information about treatment for a rare disease.
- 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.
- 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".