periventricular heterotopia

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An X-linked neurological disorder in which neurons fail to migrate into the cerebral cortex and nodules are formed in the ventricular and subventricular zones. The disorder is caused by mutation in the gene for filamin A but since some neurons do migrate it is likely that filamin B (which normally forms heterodimers with filamin A) partially compensates by forming homodimers. An autosomal recessive form is caused by mutation in the ARFGEF2 gene (ADP ribosylation factor guanine nucleotide exchange protein-2) and other forms are associated with chromosome 5p anomalies or have Ehlers–Danlos features.

Subjects: Medicine and Health.

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