Infantile spasms is associated with deletion of the MAGI2 gene on chromosome 7q11.23-q21.11.

Détails

ID Serval
serval:BIB_74562E3FC31E
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Titre
Infantile spasms is associated with deletion of the MAGI2 gene on chromosome 7q11.23-q21.11.
Périodique
American Journal of Human Genetics
Auteur(s)
Marshall C.R., Young E.J., Pani A.M., Freckmann M.L., Lacassie Y., Howald C., Fitzgerald K.K., Peippo M., Morris C.A., Shane K., Priolo M., Morimoto M., Kondo I., Manguoglu E., Berker-Karauzum S., Edery P., Hobart H.H., Mervis C.B., Zuffardi O., Reymond A., Kaplan P., Tassabehji M., Gregg R.G., Scherer S.W., Osborne L.R.
ISSN
1537-6605[electronic]
Statut éditorial
Publié
Date de publication
2008
Peer-reviewed
Oui
Volume
83
Numéro
1
Pages
106-111
Langue
anglais
Résumé
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.
Mots-clé
Chromosome Breakage, Chromosomes, Human, Pair 17, Female, Gene Deletion, Genetic Markers, Humans, In Situ Hybridization, Fluorescence, Infant, Male, Microsatellite Repeats, Oligonucleotide Array Sequence Analysis, Physical Chromosome Mapping, Polymorphism, Single Nucleotide, Proteins/genetics, Spasms, Infantile/diagnosis, Spasms, Infantile/genetics
Pubmed
Web of science
Open Access
Oui
Création de la notice
18/06/2009 13:30
Dernière modification de la notice
08/05/2019 20:27
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