EPILEPSY LINKED TO GANGLIOSIDES
Gangliosides are glycolipids containing sialic acid and are found in almost all tissues, but are especially abundant in the neurons, with a definite concentration spike in central nervous system cell membranes.
Although many researches have been conducted over the time -particularly about abnormalities in their degradation, usually associated with lysosomal storage disorders- their role in the brain has not been well characterized.
A mutation in a gene that is normally involved in the production of gangliosides in the brain has been linked to a rare form of familial epilepsy (Simpson M. A. et al. Infantile-onset epilepsy-syndrome caused by a homozygous loss-of-function mutation of GM3 synthase. Nature Genetics 36, 1225-1229, 2004).
Gangliosides, according to this research, might be important for regulating neuronal (hyper)excitability.