Relapsing necrotising encephalomyelopathy due to RANBP2 mutation
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DOI: 10.1136/practneurol-2018-002063
Abstract: 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)… read more here.
Keywords: ranbp2; relapsing necrotising; encephalomyelopathy due; necrotising encephalomyelopathy ... See more keywords