Polymicrogyria and absence of pineal gland due to PAX6 mutation

被引：129

作者：

Mitchell, TN

Free, SL

Williamson, KA

Stevens, JM

Churchill, AJ

Hanson, IM

Shorvon, SD

Moore, AT

van Heyningen, V

Sisodiya, SM

机构：

[1] UCL, Dept Clin & Expt Epilepsy, Neurol Inst, London WC1N 3BG, England

[2] Natl Soc Epilepsy, Gerrards Cross, Bucks, England

[3] Western Gen Hosp, MRC, Human Genet Unit, Edinburgh EH4 2XU, Midlothian, Scotland

[4] Bristol Eye Hosp, Bristol BS1 2LX, Avon, England

[5] Inst Ophthalmol, Div Inherited Eye Dis, London, England

来源：

ANNALS OF NEUROLOGY | 2003年 / 53卷 / 05期

基金：

英国医学研究理事会;

关键词：

D O I：

10.1002/ana.10576

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

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.

引用

页码：658 / 663

页数：6

共 19 条

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Barkovich A. J., 2000, PEDIAT NEUROIMAGING

[3]

BARTH PG, 1987, CAN J NEUROL SCI, V14, P1

[4] Pax-6 in development and evolution [J].