A novel variation in RANBP2 associated with infection-triggered familial acute necrotizing encephalopathy
Author:
Publisher
Springer Science and Business Media LLC
Subject
Psychiatry and Mental health,Neurology (clinical),Dermatology,General Medicine
Link
https://link.springer.com/content/pdf/10.1007/s10072-022-06033-8.pdf
Reference9 articles.
1. Mizuguchi M, Abe J, Mikkaichi K, Noma S, Yoshida K, Yamanaka T, Kamoshita S (1995) Acute necrotising encephalopathy of childhood: a new syndrome presenting with multifocal, symmetric brain lesions. J Neurol Neurosurg Psychiatry 58:555–561. https://doi.org/10.1136/jnnp.58.5.555
2. Neilson DE, Adams MD, Orr CM, Schelling DK, Eiben RM, Kerr DS, Anderson J, Bassuk AG, Bye AM, Childs AM, Clarke A, Crow YJ, Di Rocco M, Dohna-Schwake C, Dueckers G, Fasano AE, Gika AD, Gionnis D, Gorman MP, Grattan-Smith PJ, Hackenberg A, Kuster A, Lentschig MG, Lopez-Laso E, Marco EJ, Mastroyianni S, Perrier J, Schmitt-Mechelke T, Servidei S, Skardoutsou A, Uldall P, van der Knaap MS, Goglin KC, Tefft DL, Aubin C, de Jager P, Hafler D, Warman ML (2009) Infection-triggered familial or recurrent cases of acute necrotizing encephalopathy caused by mutations in a component of the nuclear pore, RANBP2. Am J Hum Genet 84:44–51. https://doi.org/10.1016/j.ajhg.2008.12.009
3. Iyer G, Utage P, Bailur S, Utage A, Srirambhatla A, Hasan Q (2020) Familial acute necrotizing encephalopathy: evidence from next generation sequencing of digenic inheritance. J Child Neurol 35:393–397. https://doi.org/10.1177/0883073820902308
4. Anand G, Visagan R, Chandratre S, Segal S, Nemeth AH, Squier W, Sheerin F, Neilson D, Jayawant S (2015) H1N1 triggered recurrent acute necrotizing encephalopathy in a family with a T653I mutation in the RANBP2 gene. Pediatr Infect Dis J 34:318–320. https://doi.org/10.1097/inf.0000000000000533
5. Hartley M, Sinha A, Kumar A, Aliu E, Mainali G, Paudel S (2021) Acute necrotizing encephalopathy: 2 case reports on RANBP2 mutation. Child Neurol Open 8:2329048X211030751. https://doi.org/10.1177/2329048x211030751
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1. De novo RANBP2 variant in a fetal demise case with cerebral intraparenchymal hemorrhage;American Journal of Medical Genetics Part A;2023-04-27
2. Genetic and environmental risk factors of acute infection-triggered encephalopathy;Frontiers in Neuroscience;2023-01-24
3. First case with RANBP2 biallelic mutation and severe acute necrotizing encephalopathy phenotype;Clinical Neurology and Neurosurgery;2022-10
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