| Literature DB >> 18565486 |
Christian R Marshall1, Edwin J Young, Ariel M Pani, Mary-Louise Freckmann, Yves Lacassie, Cédric Howald, Kristi K Fitzgerald, Maarit Peippo, Colleen A Morris, Kate Shane, Manuela Priolo, Masafumi Morimoto, Ikuko Kondo, Esra Manguoglu, Sibel Berker-Karauzum, Patrick Edery, Holly H Hobart, Carolyn B Mervis, Orsetta Zuffardi, Alexandre Reymond, Paige Kaplan, May Tassabehji, Ronald G Gregg, Stephen W Scherer, Lucy R Osborne.
Abstract
Infantile spasms (IS) is the most severe and common form of epilepsy occurring in the first year of life. At least half of IS cases are idiopathic in origin, with others presumed to arise because of brain insult or malformation. 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. 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.Entities:
Mesh：
Substances：
Year: 2008 PMID： 18565486 PMCID： PMC2443840 DOI： 10.1016/j.ajhg.2008.06.001
Source DB: PubMed Journal: Am J Hum Genet ISSN： 0002-9297 Impact factor: 11.025