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J Mol Neurosci. 2009 Sep;39(1-2):69-77. doi: 10.1007/s12031-009-9179-6. Epub 2009 Feb 4.

Expression profile and distribution of Efhc1 gene transcript during rodent brain development.

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Department of Medical Genetics, University of Campinas--UNICAMP, Tessália Vieira de Camargo, 126, Campinas, São Paulo, Brazil, 13084-971.


One of the putative causative genes for juvenile myoclonic epilepsy (JME) is EFHC1. We report here the expression profile and distribution of Efhc1 messenger RNA (mRNA) during mouse and rat brain development. Real-time polymerase chain reaction revealed that there is no difference in the expression of Efhc1 mRNA between right and left hemispheres in both species. In addition, the highest levels of Efhc1 mRNA were found at intra-uterine stages in mouse and in adulthood in rat. In common, there was a progressive decrease in Efhc1 expression from 1-day-old neonates to 14-day-old animals in both species. In situ hybridization studies showed that rat and mouse Efhc1 mRNAs are expressed in ependymal cells of ventricle walls. Our findings suggest that Efhc1 expression is more important during initial phases of brain development and that at this stage it could be involved in key developmental mechanisms underlying JME.

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