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Title:

Reduced cortical inhibition in a mouse model of familial childhood absence epilepsy.

Document type:
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
Author(s):
Tan, HO; Reid, CA; Single, FN; Davies, PJ; Chiu, C; Murphy, S; Clarke, AL; Dibbens, L; Krestel, H; Mulley, JC; Jones, MV; Seeburg, PH; Sakmann, B; Berkovic, SF; Sprengel, R; Petrou, S
Abstract:
Mutations in the GABA(A) receptor gamma2 subunit are associated with childhood absence epilepsy and febrile seizures. To understand better the molecular basis of absence epilepsy in man, we developed a mouse model harboring a gamma2 subunit point mutation (R43Q) found in a large Australian family. Mice heterozygous for the mutation demonstrated behavioral arrest associated with 6-to 7-Hz spike-and-wave discharges, which are blocked by ethosuximide, a first-line treatment for absence epilepsy in...     »
Journal title abbreviation:
Proc Natl Acad Sci U S A
Year:
2007
Journal volume:
104
Journal issue:
44
Pages contribution:
17536-41
Language:
eng
Fulltext / DOI:
doi:10.1073/pnas.0708440104
Pubmed ID:
http://view.ncbi.nlm.nih.gov/pubmed/17947380
Print-ISSN:
0027-8424
TUM Institution:
Institut für Neurowissenschaften
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