期刊
NEUROLOGY
卷 73, 期 10, 页码 746-753出版社
LIPPINCOTT WILLIAMS & WILKINS
DOI: 10.1212/WNL.0b013e3181af3397
关键词
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资金
- Italian Ministry of Health
- Associazione Paolo Zorzi, Fondazione Banca del Monte di Lombardia
- EU grant Functional Genomics and Neurobiology of Epilepsy (EPICURE) [LSHM-CT-2006.0373315]
Objective: To define distinctive features of nodular heterotopia in specimens derived from drug-resistant patients with epilepsy by evaluating mRNA expression of three different layer-specific markers: Ror beta, Er81, and Nurr1. Methods: We analyzed the expression profile of these genes, recognized as markers mainly expressed in layer IV for Ror beta, in layer V for Er81, and in layer VI for Nurr1, in surgical samples from 14 epileptic patients, using in situ hybridization. Six patients had subcortical nodular heterotopia and 8 patients were controls. The intrinsic organization of nodular formations and of the overlaying neocortex was assessed. Results: In all patients, the 3 selected genes showed high cortical laminar specificity. In subcortical nodular heterotopia, the different gene expression profiles revealed a rudimentary laminar organization of the nodules. In the overlaying cortex, fewer cells expressed the 3 genes in the appropriate specific layer as compared to controls. Conclusions: These data provide new insights into possible ontogenetic mechanisms of nodular heterotopia formation and show the potential role of layer-specific markers to elucidate the neuropathology of malformations of cortical development. Neurology (R) 2009;73:746-753
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