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X-Linked Periventricular Heterotopia.


GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2014.
2002 Oct 08 [updated 2009 Jun 04].



X-linked periventricular heterotopia (PH), a neuronal migration disorder, is characterized by the presence of uncalcified nodules of neurons ectopically situated along the surface of the lateral ventricles. Affected individuals are predominantly heterozygous females; males show early lethality. Affected females present with seizures at an average age of 14-15 years; intelligence ranges from normal to borderline. The risk for stroke and other vascular/coagulation problems appears to be increased.


The diagnosis of X-linked PH is established by brain MRI or CT imaging. FLNA encoding filamin-A is the only gene currently known to be associated with X-linked PH. Molecular genetic testing is possible.


Treatment of manifestations: Treatment of epilepsy generally follows principles for a seizure disorder caused by a known structural brain abnormality; carbamezipine is most often used, presumably because most epilepsy is focal. However, antiepileptic drugs may be selected based on specific attributes (e.g., teratogenic risk during pregnancy, tolerability, and efficacy). Surveillance: Carotid and abdominal ultrasound studies to address the increased risk of aortic or carotid dissection; echocardiogram to evaluate for valvular abnormalities.


X-linked PH is inherited in an X-linked dominant manner. The condition is prenatally or neonatally lethal in most males; therefore, the majority of affected individuals are female. About 50% of affected females inherit the gene mutation from their mother and at least 50% have a de novo mutation. For women with X-linked PH, the risk of passing the mutation to each child is 50%. Because of the high rate of prenatal lethality in males, most sons born to women with X-linked PH are unaffected. Prenatal diagnosis by molecular genetic testing is possible if the disease-causing mutation has been identified in an affected relative. The periventricular nodules can be visualized by ultrasound examination as early as 24 weeks' gestation, but the sensitivity of this finding is not known.

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