Infection-triggered familial or recurrent cases of acute necrotizing encephalopathy caused by mutations in a component of the nuclear pore, RANBP2.

doi:10.1016/j.ajhg.2008.12.009

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Article

Infection-triggered familial or recurrent cases of acute necrotizing encephalopathy caused by mutations in a component of the nuclear pore, RANBP2.

American journal of human genetics - 1 Jan 2009

Neilson Derek E, Adams Mark D, Orr Caitlin M D, Schelling Deborah K, Eiben Robert M, Kerr Douglas S, Anderson Jane, Bassuk Alexander G, Bye Ann M, Childs Anne-Marie, Clarke Antonia, Crow Yanick J, Di Rocco Maja, Dohna-Schwake Christian, Dueckers Gregor, Fasano Alfonso E, Gika Artemis D, Gionnis Dimitris, Gorman Mark P, Grattan-Smith Padraic J, Hackenberg Annette, Kuster Alice, Lentschig Markus G, Lopez-Laso Eduardo, Marco Elysa J, Mastroyianni Sotiria, Perrier Julie, Schmitt-Mechelke Thomas, Servidei Serenella, Skardoutsou Angeliki, Uldall Peter, van der Knaap Marjo S, Goglin Karrie C, Tefft David L, Aubin Cristin, de Jager Philip, Hafler David, Warman Matthew L

Abstract excerpt

Acute necrotizing encephalopathy (ANE) is a rapidly progressive encephalopathy that can occur in otherwise healthy children after common viral infections such as influenza and parainfluenza. Most ANE is sporadic and nonrecurrent (isolated ANE). However, we identified a 7 Mb interval containing a susceptibility locus (ANE1) in a family segregating recurrent ANE as an incompletely penetrant, autosomal-dominant...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 19118815
DOI: 10.1016/j.ajhg.2008.12.009
PMCID: PMC2668029

Genes

RANBP2

Variants

Provenance

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