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Am J Med Genet C Semin Med Genet. 2014 Jun;166C(2):198-210. doi: 10.1002/ajmg.c.31402. Epub 2014 May 23.

The genetics of lissencephaly.

Abstract

Lissencephaly is a spectrum of severe brain malformations caused by the failure of migrating neurons to reach optimal positions in the developing cerebral cortex. Several syndromes associated with lissencephaly have been characterized in recent years. Identification of the genetic basis of these disorders has brought fascinating insights into the mechanisms of brain development, as well as benefits to patients through improved molecular diagnosis and genetic counseling. This review explores the clinical presentation, radiological features, histological findings and molecular basis of lissencephaly with the aim of facilitating the selection and interpretation of gene tests in patients with 'smooth brain' phenotypes.

KEYWORDS:

DCX; LIS1; PAFAH1B1; TUBA1A; agyria; genetics; lissencephaly; pachygyria; subcortical band heterotopia

PMID:
24862549
DOI:
10.1002/ajmg.c.31402
[Indexed for MEDLINE]

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