Article
Scn1a missense mutation causes limbic hyperexcitability and vulnerability to experimental febrile seizures.
Neurobiology of disease - 1 Feb 2011
Ohno Yukihiro, Ishihara Shizuka, Mashimo Tomoji, Sofue Nobumasa, Shimizu Saki, Imaoku Takuji, Tsurumi Toshiko, Sasa Masashi, Serikawa Tadao
Abstract excerpt
Mutations of the voltage-gated sodium (Na(v)) channel subunit SCN1A have been implicated in the pathogenesis of human febrile seizures including generalized epilepsy with febrile seizures plus (GEFS+) and severe myoclonic epilepsy in infancy (SMEI). Hyperthermia-induced seizure-susceptible (Hiss) rats are the novel rat model carrying a missense mutation (N1417H) of Scn1a, which is located in the third...
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