Article
Axon initial segment dysfunction in a mouse model of genetic epilepsy with febrile seizures plus.
The Journal of clinical investigation - 1 Aug 2010
Wimmer Verena C, Reid Christopher A, Mitchell Suzanne, Richards Kay L, Scaf Byron B, Leaw Bryan T, Hill Elisa L, Royeck Michel, Horstmann Marie-Therese, Cromer Brett A, Davies Philip J, Xu Ruwei, Lerche Holger, Berkovic Samuel F, Beck Heinz, Petrou Steven
Abstract excerpt
Febrile seizures are a common childhood seizure disorder and a defining feature of genetic epilepsy with febrile seizures plus (GEFS+), a syndrome frequently associated with Na+ channel mutations. Here, we describe the creation of a knockin mouse heterozygous for the C121W mutation of the beta1 Na+ channel accessory subunit seen in patients with GEFS+. Heterozygous mice with increased core temperature displayed...
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