Citations for
1EIF2B5, VWM1
Leukoencephalopathy with vanishing white matter: a review.
Bugiani M, Boor I, Powers JM, Scheper GC, van der Knaap MS.
J Neuropathol Exp Neurol 69(10):987-96.PMID: 20838246 2010
2EIF2B5, VWM1
Late-onset vanishing white matter disease with compound heterozygous EIF2B5 gene mutations.
Lee HN, Koh SH, Lee KY, Ki CS, Lee YJ.
Eur J Neurol 16(3):e42-3. Epub 2008 Dec 23. No abstract available. PMID: 19170749 2009
3EIF2B1, EIF2B5, VWM1, VWM3
A point mutation in translation initiation factor 2B leads to a continuous hyper stress state in oligodendroglial-derived cells.
Kantor L, Pinchasi D, Mintz M, Hathout Y, Vanderver A, Elroy-Stein O.
PLoS One 3(11):e3783. Epub 2008 Nov 21.PMID: 19023445 2008
4EIF2B5, VWM1
Leucoencephalopathy with vanishing white matter may cause progressive myoclonus epilepsy.
Jansen AC, Andermann E, Niel F, Creveaux I, Boespflug-Tanguy O, Andermann F.
Epilepsia 49(5):910-3. Epub 2008 Feb 7.PMID: 18266750 2008
5EIF2B5, VWM1
Exon deletion in the non-catalytic domain of eIF2Bepsilon due to a splice site mutation leads to infantile forms of CACH/VWM with severe decrease of eIF2B GEF activity.
Horzinski L, Gonthier C, Rodriguez D, Scherer C, Boespflug-Tanguy O, Fogli A.
Ann Hum Genet 72(Pt 3):410-5. Epub 2008 Feb 19.PMID: 18294360 2008
6EIF2B5, VWM1
Peripheral neuropathy in vanishing white matter disease with a novel EIF2B5 mutation.
Federico A, Scali O, Stromillo ML, Di Perri C, Bianchi S, Sicurelli F, De Stefano N, Malandrini A, Dotti MT.
Neurology 67(2):353-5. 2006
7EIF2B5, VWM1
EIF2B5 mutations compromise GFAP(+) astrocyte generation in vanishing white matter leukodystrophy.
Dietrich J, Lacagnina M, Gass D, Richfield E, Mayer-Proschel M, Noble M, Torres C, Proschel C.
Nat Med 11(3):277-83. Epub 2005 Feb 20. 2005
8VWM1, VWM2, VWM3, VWM4, VWM5, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5
Identification of ten novel mutations in patients with eIF2B-related disorders.
Ohlenbusch A, Henneke M, Brockmann K, Goerg M, Hanefeld F, Kohlschutter A, Gartner J.
Hum Mutat 25(4):411. 2005
9EIF2B5, VWM1
Adult-onset leukoencephalopathy with vanishing white matter with a missense mutation in EIF2B5.
Ohtake H, Shimohata T, Terajima K, Kimura T, Jo R, Kaseda R, Iizuka O, Takano M, Akaiwa Y, Goto H, Kobayashi H, Sugai T, Muratake T, Hosoki T, Shioiri T, Okamoto K, Onodera O, Tanaka K, Someya T, Nakada T, Tsuji S.
Neurology 62(9):1601-3. 2004
10EIF2B2, EIF2B5, VWM1, VWM2
eIF2B-Related Disorders: Antenatal Onset and Involvement of Multiple Organs.
Van Der Knaap MS, Van Berkel CG, Herms J, Van Coster R, Baethmann M, Naidu S, Boltshauser E, Willemsen MA, Plecko B, Hoffmann GF, Proud CG, Scheper GC, Pronk JC.
Am J Hum Genet 73(6):1199-207. Epub 2003 Oct 17. 2003
11VWM1
Fatal infantile leukodystrophy: a severe variant of CACH/VWM syndrome, allelic to chromosome 3q27.
Francalanci P, Eymard-Pierre E, Dionisi-Vici C, Boldrini R, Piemonte F, Virgili R, Fariello G, Bosman C, Santorelli FM, Boespflug-Tanguy O, Bertini E.
Neurology 57(2):265-70. 2001
12VWM1
The gene for leukoencephalopathy with vanishing white matter is located on chromosome 3q27.
Leegwater PA, et al.
Am J Hum Genet 65(3):728-34 1999