Article
Mutations of voltage-gated sodium channels in movement disorders and epilepsy.
Novartis Foundation symposium - 1 Jan 2002
Meisler Miriam H, Kearney Jennifer A, Sprunger Leslie K, MacDonald Bryan T, Buchner David A, Escayg Andrew
Abstract excerpt
Spontaneous and induced mutations of neuronal Na+ channels in human patients and mutant mice result in a broad range of neurological-disease. Epilepsy, a disorder of neuronal hyperexcitability, has been associated with delayed inactivation of SCN2A in mice, and with altered kinetics of SCN1A in human patients. Movement disorders including tremor, ataxia, dystonia and paralysis have been observed in mice with...
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