Maurer-Morelli Cláudia Vianna, Secolin Rodrigo, Marchesini Rafael Breglio, Santos Neide Ferreira, Kobayashi Eliane, Cendes Fernando, Lopes-Cendes Iscia
Department of Medical Genetics, Universidade Estadual de Campinas-UNICAMP, Tessália Vieira de Camargo, 126, Cidade Universitária Zeferino Vaz, Campinas CEP 13084-971, SP, Brazil.
Epilepsy Res. 2006 Oct;71(2-3):233-6. doi: 10.1016/j.eplepsyres.2006.06.016. Epub 2006 Aug 17.
A transgenic mouse model carrying a mutation in the Scn2a gene showed chronic focal seizures associated with extensive cell loss and gliosis in the hippocampus, a similar phenotype found in familial mesial temporal lobe epilepsy (FMTLE). Our objective was to test whether the human homolog of the Scn2a gene is responsible for hippocampal abnormalities in FMTLE by linkage analysis. We conclusively ruled out the SCN2A gene as candidate in FMTLE.
