{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,18]],"date-time":"2025-09-18T02:16:34Z","timestamp":1758161794593,"version":"3.44.0"},"reference-count":12,"publisher":"Mathematical Modelling and Numerical Simulation with Applications","issue":"02","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Pediatr Genet"],"published-print":{"date-parts":[[2023,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>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 resonance imaging (MRI) shows multiple symmetrical lesions affecting primarily the thalami but also brain stem, putamina, periventricular white matter, and cerebellum. Most cases of ANE are sporadic and nonrecurrent. However, a missense variant in RANBP2 has been identified in some families with recurrent ANE (OMIM # 608033), also named autosomal dominant ANE (ADANE). Clinical manifestation, clinical course, and brain MRI imaging findings of six affected members of two distinct families with ADANE were described. Sequencing revealed heterozygous c.1754C\u2009&gt;\u2009T variant in RANBP2 (p.Thr585Met) in affected and asymptomatic family members. Only few ADANE families have been reported and it is the first description in South America. Differential diagnosis of Leigh disease and acute disseminated encephalomyelitis is discussed. Our report reinforces incomplete penetrance of ADANE and intrafamilial phenotypic variability of outcome.<\/jats:p>","DOI":"10.1055\/s-0040-1721802","type":"journal-article","created":{"date-parts":[[2021,1,7]],"date-time":"2021-01-07T18:47:55Z","timestamp":1610045275000},"page":"144-149","source":"Crossref","is-referenced-by-count":1,"title":["Variable Presentation and Reduced Penetrance in Autosomal Dominant Acute Necrotizing Encephalopathy Related to RANBP2 Variant"],"prefix":"10.53391","volume":"12","author":[{"given":"Daniel R.","family":"Carvalho","sequence":"additional","affiliation":[{"name":"Genetic Unit, SARAH Network of Rehabilitation Hospitals, Brasilia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carlos E.","family":"Speck-Martins","sequence":"additional","affiliation":[{"name":"Genetic Unit, SARAH Network of Rehabilitation Hospitals, Brasilia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bernardo J. A. F.","family":"Martins","sequence":"additional","affiliation":[{"name":"Radiology Unit, SARAH Network of Rehabilitation Hospitals, Brasilia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ana Paula","family":"Izumi","sequence":"additional","affiliation":[{"name":"Pediatric Unit, SARAH Network of Rehabilitation Hospitals, Brasilia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alessandra","family":"La Rocque-Ferreira","sequence":"additional","affiliation":[{"name":"Genetic Unit, SARAH Network of Rehabilitation Hospitals, Brasilia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"31409","published-online":{"date-parts":[[2021,1,7]]},"reference":[{"issue":"02","key":"ref1","first-page":"95","article-title":"Acute necrotizing encephalopathy of childhood","volume":"12","author":"A Rezaei","year":"2014","journal-title":"J Pediatr Neurol"},{"issue":"09","key":"ref2","first-page":"1919","article-title":"Acute necrotizing encephalopathy of childhood: correlation of MR findings and clinical outcome","volume":"27","author":"A M Wong","year":"2006","journal-title":"AJNR Am J Neuroradiol"},{"issue":"07","key":"ref3","doi-asserted-by":"crossref","first-page":"810","DOI":"10.1007\/s00247-008-0823-z","article-title":"Acute necrotizing encephalopathy of childhood: typical findings in an atypical disease","volume":"38","author":"B W Skelton","year":"2008","journal-title":"Pediatr Radiol"},{"issue":"10","key":"ref4","doi-asserted-by":"crossref","first-page":"872","DOI":"10.1177\/08830738060210101401","article-title":"Acute necrotizing encephalopathy of childhood in non-Asian patients: report of three cases and literature review","volume":"21","author":"S D Mastroyianni","year":"2006","journal-title":"J Child Neurol"},{"issue":"06","key":"ref5","doi-asserted-by":"crossref","first-page":"527","DOI":"10.1177\/088307380502000612","article-title":"Acute necrotizing encephalopathy in caucasian children: two cases and review of the 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