RANBP2 mutation and acute necrotizing encephalopathy: 2 cases and a literature review of the expanding clinico-radiological phenotype

European Journal of Paediatric Neurology

Volumn 19, Issue 2, 2015, Pages 106-113

  Singh, Rahul R ^a   Sedani, Sagar ^b   Lim, Ming ^a   Wassmer, Evangeline ^b   Absoud, Michael ^a  

^a KING'S COLLEGE LONDON   (United Kingdom)

^b BIRMINGHAM CHILDREN S HOSPITAL   (United Kingdom)

Author keywords

Acute disseminated encephalomyelitis; Acute necrotizing encephalopathy; ADEM; ANE; Ran binding protein 2; RANBP2

Indexed keywords

ACICLOVIR; CEFOTAXIME; CLARITHROMYCIN; METHYLPREDNISOLONE; PREDNISOLONE; PROTEIN; RANBP 2 PROTEIN; UNCLASSIFIED DRUG; CHAPERONE; NUCLEOPORIN; RAN-BINDING PROTEIN 2;

ACUTE BRAIN DISEASE; ACUTE DISSEMINATED ENCEPHALOMYELITIS; ACUTE NECROTIZING ENCEPHALOPATHY; CASE REPORT; CHILD; CLINICAL FEATURE; DIARRHEA; DYSARTHRIA; FEMALE; FEVER; GENE MUTATION; HOSPITAL ADMISSION; HOSPITAL DISCHARGE; HUMAN; INFANT; LETHARGY; LUMBAR PUNCTURE; MENINGOENCEPHALITIS; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN CEREBROSPINAL FLUID LEVEL; RARE DISEASE; REVIEW; STEROID THERAPY; THALAMUS; TONIC CLONIC SEIZURE; TREATMENT DURATION; VOMITING; ENCEPHALOMYELITIS; GENETICS; MALE; MISSENSE MUTATION; NECROSIS;

CHILD; CHILD, PRESCHOOL; FEMALE; HUMANS; INFANT; LEUKOENCEPHALITIS, ACUTE HEMORRHAGIC; MAGNETIC RESONANCE IMAGING; MALE; MOLECULAR CHAPERONES; MUTATION, MISSENSE; NECROSIS; NUCLEAR PORE COMPLEX PROTEINS; PHENOTYPE;

EID: 84923174217     PISSN: 10903798     EISSN: 15322130     Source Type: Journal    
DOI: 10.1016/j.ejpn.2014.11.010     Document Type: Review

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