Variable Presentation and Reduced Penetrance in Autosomal Dominant Acute Necrotizing Encephalopathy Related to RANBP2 Variant

Abstract Acute necrotizing encephalopathy (ANE) is clinically characterized by fever, acute alteration of consciousness, seizures, and rapid progression to coma within days of onset of a viral illness occurring in healthy children without evidence of central nervous system infection. Brain magnetic...

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Veröffentlicht in:	Journal of pediatric genetics (Birmingham, Ala.) Ala.), 2023-06, Vol.12 (2), p.144-149
Hauptverfasser:	Carvalho, Daniel R., Speck-Martins, Carlos E., Martins, Bernardo J. A. F., Izumi, Ana Paula, La Rocque-Ferreira, Alessandra
Format:	Artikel
Sprache:	eng
Schlagworte:	Case Report
Online-Zugang:	Volltext
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