Polymicrogyria and absence of pineal gland due to PAX6 mutation
TN Mitchell, SL Free, KA Williamson… - Annals of Neurology …, 2003 - Wiley Online Library
TN Mitchell, SL Free, KA Williamson, JM Stevens, AJ Churchill, IM Hanson, SD Shorvon…
Annals of Neurology: Official Journal of the American Neurological …, 2003•Wiley Online LibraryIdentification 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. Ann Neurol 2003; 53: 658–663
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. Ann Neurol 2003; 53: 658–663
Abstract
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. Ann Neurol 2003;53:658–663
Wiley Online Library