Send to:

Choose Destination
See comment in PubMed Commons below
Ann Neurol. 2003 May;53(5):658-63.

Polymicrogyria and absence of pineal gland due to PAX6 mutation.

Author information

  • 1Department of Clinical and Experimental Epilepsy, Institute of Neurology, University College London, London.


Identification of genes involved in human cerebral development is important for our understanding of disorders with potential neurodevelopmental causes such as epilepsy and learning disability. Murine models suggest that PAX6 plays a key role in human brain development. With magnetic resonance imaging in 24 humans heterozygous for defined PAX6 mutations, we demonstrated widespread structural abnormalities including absence of the pineal gland and unilateral polymicrogyria.

[PubMed - indexed for MEDLINE]
PubMed Commons home

PubMed Commons

How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for Wiley
    Loading ...
    Write to the Help Desk