Layer-specific genes reveal a rudimentary laminar pattern in human nodular heterotopia.

R. Garbelli, L. Rossini, R. F. Moroni, A. Watakabe, T. Yamamori, L. Tassi, M. Bramerio, G. L. Russo, C. Frassoni, R. Spreafico

Research output: Contribution to journalArticlepeer-review


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: Rorbeta, Er81, and Nurr1. METHODS: We analyzed the expression profile of these genes, recognized as markers mainly expressed in layer IV for Rorbeta, 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.

Original languageEnglish
Pages (from-to)746-753
Number of pages8
Issue number10
Publication statusPublished - Sep 8 2009

ASJC Scopus subject areas

  • Clinical Neurology


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