Infantile Spasms Is Associated with Deletion of the MAGI2 Gene on Chromosome 7q11.23-q21.11

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-...

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Hauptverfasser: 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.
Format: Artigo
Sprache:Inglês
Veröffentlicht: Elsevier 2008
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Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC2443840/
https://ncbi.nlm.nih.gov/pubmed/18565486
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2008.06.001
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