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Polymicrogyria and absence of pineal gland due to PAX6 mutation
Author(s) -
Mitchell Tejal N.,
Free Samantha L.,
Williamson Kathleen A.,
Stevens John M.,
Churchill Amanda J.,
Hanson Isabel M.,
Shorvon Simon D.,
Moore Anthony T.,
van Heyningen Veronica,
Sisodiya Sanjay M.
Publication year - 2003
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.10576
Subject(s) - polymicrogyria , pax6 , epilepsy , pineal gland , mutation , neuroscience , magnetic resonance imaging , biology , gene , pathology , medicine , anatomy , genetics , radiology , melatonin , transcription factor
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