Pain & Central Nervous System Week via NewsEdge :

2008 SEP 8 - (NewsRx.com) -- "Infantile spasms (IS) is the most severe and common form of epilepsy occurring in the first year of life (see also Life Sciences). At least half of IS cases are idiopathic in origin, with others presumed to arise because of brain insult or malformation," investigators in Toronto, Canada report.

"Here, we identify a locus for IS by high-resolution mapping of 7q11.23-q21.1 interstitial deletions in patients. The breakpoints delineate a 500 kb interval within the MAGI2 gene (1.4 Mb in size) that is hemizygously disrupted in 15 of 16 participants with IS or childhood epilepsy, but remains intact in 11 of 12 participants with no seizure history," wrote C.R. Marshall and colleagues, University of Toronto.

The researchers concluded: "MAGI2 encodes the synaptic scaffolding protein membrane-associated guanylate kinase inverted-2 that interacts with Stargazin, a protein also associated with epilepsy in the stargazer mouse."

Marshall and colleagues published their study in American Journal of Human Genetics (Infantile spasms is associated with deletion of the MAGI2 gene on chromosome 7q11.23-q21.11. American Journal of Human Genetics, 2008;83(1):106-111).

For additional information, contact L.R. Osborne, University of Toronto, Dept. of Molecular Genetics, 100 College St., Toronto, ON M5S 1A8, Canada.

The publisher of the American Journal of Human Genetics can be contacted at: Cell Press, 600 Technology Square, 5TH Floor, Cambridge, MA 02139, USA.

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