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Variable clinical course in acute necrotizing encephalopathy and identification of a novel RANBP2 mutation

Sell, Katharina ; Storch, Katja ; Hahn, Gabriele ; Lee-Kirsch, Min Ae ; Ramantani, Georgia ; Jackson, Sandra ; Neilson, Derek ; von der Hagen, Maja ; Hehr, Ute ; Smitka, Martin


Acute necrotizing encephalopathy (ANE) is a rare disease presenting with rapidly progressing encephalopathy. It usually occurs in otherwise healthy children after common viral infections. The hallmarks of ANE are the neuroradiological findings of multiple symmetric lesions in the thalami, midbrain, pons and brainstem. Most cases are sporadic and non recurrent. However, recurrent or familial forms ...


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