| Full text | |
| Author(s): |
Papale, Ligia A.
[1, 2]
;
Beyer, Barbara
[3]
;
Jones, Julie M.
[4]
;
Sharkey, Lisa M.
[4]
;
Tufik, Sergio
;
Epstein, Michael
[2]
;
Letts, Verity A.
[3]
;
Meisler, Miriam H.
[4]
;
Frankel, Wayne N.
[3]
;
Escayg, Andrew
[2]
Total Authors: 10
|
| Affiliation: | [1] Univ Fed Sao Paulo, Dept Psychobiol, Sao Paulo - Brazil
[2] Emory Clin, Dept Human Genet, Atlanta, GA 30322 - USA
[3] Jackson Lab, Bar Harbor, ME 04609 - USA
[4] Univ Michigan, Dept Human Genet, Ann Arbor, MI 48109 - USA
Total Affiliations: 4
|
| Document type: | Journal article |
| Source: | Human Molecular Genetics; v. 18, n. 9, p. 1633-1641, MAY 1 2009. |
| Web of Science Citations: | 70 |
| Abstract | |
In a chemical mutagenesis screen, we identified the novel Scn8a(8J) allele of the gene encoding the neuronal voltage-gated sodium channel Na(v)1.6. The missense mutation V929F in this allele alters an evolutionarily conserved residue in the pore loop of domain 2 of Na(v)1.6. Electroencephalography (EEG) revealed well-defined spike-wave discharges (SWD), the hallmark of absence epilepsy, in Scn8a(8J) heterozygotes and in heterozygotes for two classical Scn8a alleles, Scn8a(med) (null) and Scn8a(med-jo) (missense). Mouse strain background had a significant effect on SWD, with mutants on the C3HeB/FeJ strain showing a higher incidence than on C57BL/6J. The abnormal EEG patterns in heterozygous mutant mice and the influence of genetic background on SWD make SCN8A an attractive candidate gene for common human absence epilepsy, a genetically complex disorder. (AU) | |
| FAPESP's process: | 07/50534-0 - Caracterização do padrão de sono em modelos animais de epilepsia |
| Grantee: | Ligia Assumpção Papale |
| Support Opportunities: | Scholarships in Brazil - Doctorate (Direct) |
| FAPESP's process: | 98/14303-3 - Center for Sleep Studies |
| Grantee: | Sergio Tufik |
| Support Opportunities: | Research Grants - Research, Innovation and Dissemination Centers - RIDC |