Literature DB >> 25230711

Vanishing white matter disease with mutations in EIF2B5 gene.

Suvasini Sharma1, Mohemmed Ajij, Varinder Singh, Satinder Aneja.   

Abstract

An 18-mo-old girl was brought with complaints of sudden loss of attained milestones after a febrile illness at 13 mo of age. MRI of the brain showed extensive loss of white matter with rarefaction and cystic degeneration; suggestive of vanishing white matter disease. The patient was found to be compound heterozygote for two mutations in the gene EIF2B5; confirming the diagnosis.

Entities:  

Mesh：

Substances：

Year:  2014        PMID： 25230711     DOI： 10.1007/s12098-014-1583-4

Source DB:  PubMed          Journal:  Indian J Pediatr        ISSN： 0019-5456            Impact factor:   1.967


  7 in total

Review 1.  Vanishing white matter disease.

Authors:  Marjo S van der Knaap; Jan C Pronk; Gert C Scheper
Journal:  Lancet Neurol       Date:  2006-05       Impact factor: 44.182

2.  A Japanese girl with leukoencephalopathy with vanishing white matter.

Authors:  C Sugiura; H Miyata; A Oka; S Takashima; E Ohama; K Takeshita
Journal:  Brain Dev       Date:  2001-03       Impact factor: 1.961

Review 3.  Leukoencephalopathy with vanishing white matter: a review.

Authors:  Marianna Bugiani; Ilja Boor; James M Powers; Gert C Scheper; Marjo S van der Knaap
Journal:  J Neuropathol Exp Neurol       Date:  2010-10       Impact factor: 3.685

4.  Vanishing white matter disease associated with ptosis and myoclonic seizures.

Authors:  Suvasini Sharma; Ravindra Arya; K N Vykunta Raju; Atin Kumar; Gert C Scheper; Marjo S van der Knaap; Sheffali Gulati
Journal:  J Child Neurol       Date:  2010-11-29       Impact factor: 1.987

5.  Subunits of the translation initiation factor eIF2B are mutant in leukoencephalopathy with vanishing white matter.

Authors:  P A Leegwater; G Vermeulen; A A Könst; S Naidu; J Mulders; A Visser; P Kersbergen; D Mobach; D Fonds; C G van Berkel; R J Lemmers; R R Frants; C B Oudejans; R B Schutgens; J C Pronk; M S van der Knaap
Journal:  Nat Genet       Date:  2001-12       Impact factor: 38.330

6.  Vanishing white matter disease: the first reported chinese patient.

Authors:  Sheila S N Wong; David C K Luk; Virginia C N Wong; Gert C Scheper; Marjo S van der Knaap
Journal:  J Child Neurol       Date:  2008-06       Impact factor: 1.987

7.  Genetic and clinical heterogeneity in eIF2B-related disorder.

Authors:  Jelena Maletkovic; Raphael Schiffmann; J Rafael Gorospe; Erynn S Gordon; Michelle Mintz; Eric P Hoffman; Gulay Alper; David R Lynch; Bhim S Singhal; Cary Harding; Hernan Amartino; Candida M Brown; Alicia Chan; Deborah Renaud; Michael Geraghty; Lloyd Jensen; Nesrin Senbil; Nadja Kadom; Javad Nazarian; Thomas Hartka; Hiroki Morizono; Adeline Vanderver
Journal:  J Child Neurol       Date:  2008-02       Impact factor: 1.987
  7 in total
  3 in total

1.  High EIF2B5 mRNA expression and its prognostic significance in liver cancer: a study based on the TCGA and GEO database.

Authors:  Yan Jiao; Zhuo Fu; Yanqing Li; Lingyu Meng; Yahui Liu
Journal:  Cancer Manag Res       Date:  2018-11-20       Impact factor: 3.989

2.  EIF2B2 gene mutation causing early onset vanishing white matter disease: a case report.

Authors:  Ilaria Filareto; Giulia Cinelli; Ilaria Scalabrini; Elisa Caramaschi; Patrizia Bergonzini; Elisabetta Spezia; Alessandra Todeschini; Lorenzo Iughetti
Journal:  Ital J Pediatr       Date:  2022-07-27       Impact factor: 3.288

3.  Clinical and genetic spectrum of 104 Indian families with central nervous system white matter abnormalities.

Authors:  Parneet Kaur; Michelle C do Rosario; Malavika Hebbar; Suvasini Sharma; Neethukrishna Kausthubham; Karthik Nair; Shrikiran A; Ramesh Bhat Y; Leslie Edward S Lewis; Sheela Nampoothiri; Siddaramappa J Patil; Narayanaswami Suresh; Sunita Bijarnia Mahay; Ratna Dua Puri; Shivanand Pai; Anupriya Kaur; Rakshith Kc; Nutan Kamath; Shruti Bajaj; Ali Kumble; Rajesh Shetty; Rathika Shenoy; Mahesh Kamate; Hitesh Shah; Mamta N Muranjan; Yatheesha Bl; K Shreedhara Avabratha; Girish Subramaniam; Rajagopal Kadavigere; Stephanie Bielas; Katta Mohan Girisha; Anju Shukla
Journal:  Clin Genet       Date:  2021-07-30       Impact factor: 4.438
  3 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.