title: THE SCN2A gene is not a likely candidate for familial mesial temporal lobe epilepsy.
abstract: 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.
authors.affiliation: Department of Medical Genetics, Universidade Estadual de Campinas-UNICAMP, Tessália Vieira de Camargo, 126, Cidade Universitária Zeferino Vaz, Campinas CEP 13084-971, SP, Brazil.
authors.forename: Cláudia Vianna
authors.initials: CV
authors.lastname: Maurer-Morelli
authors.forename: Rodrigo
authors.initials: R
authors.lastname: Secolin
authors.forename: Rafael Breglio
authors.initials: RB
authors.lastname: Marchesini
authors.forename: Neide Ferreira
authors.initials: NF
authors.lastname: Santos
authors.forename: Eliane
authors.initials: E
authors.lastname: Kobayashi
authors.forename: Fernando
authors.initials: F
authors.lastname: Cendes
authors.forename: Iscia
authors.initials: I
authors.lastname: Lopes-Cendes
mesh_terms: D004833:Epilepsy, Temporal Lobe / Q000235:genetics*; D008040:Genetic Linkage; D006801:Humans; D018895:Microsatellite Repeats; D009154:Mutation; D062551:NAV1.2 Voltage-Gated Sodium Channel; D009419:Nerve Tissue Proteins / Q000235:genetics*; D012598:Sclerosis; D015222:Sodium Channels / Q000235:genetics*; D013702:Temporal Lobe / Q000473:pathology*
chemical_list: D062551:NAV1.2 Voltage-Gated Sodium Channel; D009419:Nerve Tissue Proteins; C568251:SCN2A protein, human; C000654500:Scn2a protein, mouse; D015222:Sodium Channels