Infantile spasms is associated with deletion of the MAGI2 gene on chromosome 7q11.23-q21.11.
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ABSTRACT:
SUBMITTER: Marshall CR
PROVIDER: S-EPMC2443840 | biostudies-literature | 2008 Jul
REPOSITORIES: biostudies-literature
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Infantile spasms is associated with deletion of the MAGI2 gene on chromosome 7q11.23-q21.11.
Marshall Christian R CR Young Edwin J EJ Pani Ariel M AM Freckmann Mary-Louise ML Lacassie Yves Y Howald Cédric C Fitzgerald Kristi K KK Peippo Maarit M Morris Colleen A CA Shane Kate K Priolo Manuela M Morimoto Masafumi M Kondo Ikuko I Manguoglu Esra E Berker-Karauzum Sibel S Edery Patrick P Hobart Holly H HH Mervis Carolyn B CB Zuffardi Orsetta O Reymond Alexandre A Kaplan Paige P Tassabehji May M Gregg Ronald G RG Scherer Stephen W SW Osborne Lucy R LR
American journal of human genetics 20080619 1
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 childhoo ...[more]
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