Article
RANBP2 mutation in an Indian child with recurrent acute necrotizing encephalopathy.
Brain & development - 1 Nov 2016
Sondhi Vishal, Chakrabarty Biswaroop, Kumar Atin, Kohli Sudha, Saxena Renu, Verma I C, Gulati Sheffali
Abstract excerpt
BACKGROUND: Acute necrotizing encephalopathy (ANE) is a rare disorder characterized by encephalopathy following a febrile illness, mostly viral. Most cases are sporadic; however, recurrent and familial cases have been linked to RANBP2 mutation. DESCRIPTION OF THE CASE: This is a description of a three and half years old girl with recurrent ANE with RANBP2 mutation (c.1754 C>T (p.T585M)). She had two episodes of...
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