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Dokumenttyp:
journal article 
Autor(en):
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 
Titel:
Reduced cortical inhibition in a mouse model of familial childhood absence epilepsy. 
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...    »
 
Zeitschriftentitel:
Proc Natl Acad Sci U S A 
Jahr:
2007 
Band / Volume:
104 
Heft / Issue:
44 
Seitenangaben Beitrag:
17536-41 
Sprache:
eng 
Print-ISSN:
0027-8424 
TUM Einrichtung:
r Neurowissenschaften