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Published in 2019 at "Practical Neurology"
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)…
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Keywords:
ranbp2;
relapsing necrotising;
encephalomyelopathy due;
necrotising encephalomyelopathy ... See more keywords