Article
Generalized epilepsy with febrile seizures plus-associated sodium channel beta1 subunit mutations severely reduce beta subunit-mediated modulation of sodium channel function.
Neuroscience - 10 Aug 2007
Xu R, Thomas E A, Gazina E V, Richards K L, Quick M, Wallace R H, Harkin L A, Heron S E, Berkovic S F, Scheffer I E, Mulley J C, Petrou S
Abstract excerpt
Two novel mutations (R85C and R85H) on the extracellular immunoglobulin-like domain of the sodium channel beta1 subunit have been identified in individuals from two families with generalized epilepsy with febrile seizures plus (GEFS+). The functional consequences of these two mutations were determined by co-expression of the human brain NaV1.2 alpha subunit with wild type or mutant beta1 subunits in human...
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