Rapid and inexpensive bedside diagnosis of RAN binding protein 2-associated acute necrotizing encephalopathy
Benoît Gouy,
Adrien Decorsière,
Sophie Desgraupes
et al.
Abstract:Acute necrotizing encephalopathy 1 (ANE1) is a very rare disorder associated with a dominant heterozygous mutation in the RANBP2 (RAN binding protein 2) gene. ANE1 is frequently triggered by a febrile infection and characterized by serious and irreversible neurological damage. Although only a few hundred cases have been reported, mutations in RANBP2 are only partially penetrant and can occur de novo, suggesting that their frequency may be higher in some populations. Genetic diagnosis is a lengthy process, pote… Show more
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