THE SCN2A gene is not a likely candidate for familial mesial temporal lobe epilepsy.
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.
Maurer-Morelli
Cláudia Vianna
CV
Department of Medical Genetics, Universidade Estadual de Campinas-UNICAMP, Tessália Vieira de Camargo, 126, Cidade Universitária Zeferino Vaz, Campinas CEP 13084-971, SP, Brazil.
Secolin
Rodrigo
R
Marchesini
Rafael Breglio
RB
Santos
Neide Ferreira
NF
Kobayashi
Eliane
E
Cendes
Fernando
F
Lopes-Cendes
Iscia
I
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*
D062551:NAV1.2 Voltage-Gated Sodium Channel; D009419:Nerve Tissue Proteins; C568251:SCN2A protein, human; C000654500:Scn2a protein, mouse; D015222:Sodium Channels