Deletion of chromosome 1p36 is associated with periventricular nodular heterotopia.

@article{Neal2006DeletionOC,
  title={Deletion of chromosome 1p36 is associated with periventricular nodular heterotopia.},
  author={Jason Bennett Neal and Kira A Apse and Mustafa Sahin and Christopher A. Walsh and Volney Sheen},
  journal={American journal of medical genetics. Part A},
  year={2006},
  volume={140 15},
  pages={
          1692-5
        }
}
Periventricular heterotopia (PH) is a malformation of cortical development characterized by the ectopic localization of neuronal nodules along the lateral ventricle. Mutations in X-linked filamin A gene are the most common cause of PH, although a rarer autosomal recessive form of PH with microcephaly due to ARFGEF2 mutations has been described [Sheen et al., 2001]. Affected individuals generally are of normal intelligence and most often present with adolescent onset seizures. The 1p36 deletion… CONTINUE READING
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