Article
Infantile spasms is associated with deletion of the MAGI2 gene on chromosome 7q11.23-q21.11.
American journal of human genetics - 1 Jul 2008
Marshall Christian R, Young Edwin J, Pani Ariel M, Freckmann Mary-Louise, Lacassie Yves, Howald Cédric, Fitzgerald Kristi K, Peippo Maarit, Morris Colleen A, Shane Kate, Priolo Manuela, Morimoto Masafumi, Kondo Ikuko, Manguoglu Esra, Berker-Karauzum Sibel, Edery Patrick, Hobart Holly H, Mervis Carolyn B, Zuffardi Orsetta, Reymond Alexandre, Kaplan Paige, Tassabehji May, Gregg Ronald G, Scherer Stephen W, Osborne Lucy R
Abstract excerpt
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....
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