Infection-triggered familial or recurrent cases of acute necrotizing encephalopathy caused by mutations in a component of the nuclear pore, RANBP2 by 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 in American journal of human genetics (2009).

[PMID: 19118815] PubMed

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