X-linked periventricular heterotopia

Common Name(s)

X-linked periventricular heterotopia

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.  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.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "X-linked periventricular heterotopia" for support, advocacy or research.

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General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "X-linked periventricular heterotopia" returned 1 free, full-text research articles on human participants. First 3 results:

Mutations in the X-linked filamin 1 gene cause periventricular nodular heterotopia in males as well as in females.
 

Author(s): V L Sheen, P H Dixon, J W Fox, S E Hong, L Kinton, S M Sisodiya, J S Duncan, F Dubeau, I E Scheffer, S C Schachter, A Wilner, R Henchy, P Crino, K Kamuro, F DiMario, M Berg, R Kuzniecky, A J Cole, E Bromfield, M Biber, D Schomer, J Wheless, K Silver, G H Mochida, S F Berkovic, F Andermann, E Andermann, W B Dobyns, N W Wood, C A Walsh

Journal: Hum. Mol. Genet.. 2001 Aug;10(17):1775-83.

 

Periventricular heterotopia (PH) is a human neuronal migration disorder in which many neurons destined for the cerebral cortex fail to migrate. Previous analysis showed heterozygous mutations in the X-linked gene filamin 1 (FLN1), but examined only the first six (of 48) coding exons ...

Last Updated: 4 Sep 2001

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Reviews from the PubMed Database

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The terms "X-linked periventricular heterotopia" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

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