Article
Genetic enhancement of cognition in a kindred with cone-rod dystrophy due to RIMS1 mutation.
Journal of medical genetics - 1 Jun 2007
Sisodiya Sanjay M, Thompson Pamela J, Need Anna, Harris Sarah E, Weale Michael E, Wilkie Susan E, Michaelides Michel, Free Samantha L, Walley Nicole, Gumbs Curtis, Gerrelli Dianne, Ruddle Piers, Whalley Lawrence J, Starr John M, Hunt David M, Goldstein David B, Deary Ian J, Moore Anthony T
Abstract excerpt
BACKGROUND: The genetic basis of variation in human cognitive abilities is poorly understood. RIMS1 encodes a synapse active-zone protein with important roles in the maintenance of normal synaptic function: mice lacking this protein have greatly reduced learning ability and memory function. OBJECTIVE: An established paradigm examining the structural and functional effects of mutations in genes expressed in the...
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