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Relapsing necrotising encephalomyelopathy due to RANBP2 mutation


A young woman with a history of previously undiagnosed episodic neurological deterioration since early childhood associated with viral illnesses developed fulminant encephalitis. Standard investigations gave no diagnosis. Next-generation sequencing identified a heterozygous mutation c.1754C>T (p.Thr585Met) in the RANBP2 gene, giving the diagnosis of recurrent acute necrotising encephalopathy type 1. This condition is probably underdiagnosed, especially in adults, and should be considered in patients with recurrent encephalopathy.

  • neurogenetics
  • clinical neurology

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    Phil E M Smith Geraint N Fuller
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    Rhys H Thomas Naomi J P Thomas

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