Unstable insertion in the 5′ flanking region of the cystatin B gene is the most common mutation in progressive myoclonus epilepsy type 1, EPM1-Reference-Cited by-同舟云学术

Unstable insertion in the 5′ flanking region of the cystatin B gene is the most common mutation in progressive myoclonus epilepsy type 1, EPM1

Published:1997-03 Issue:3 Volume:15 Page:298-302
ISSN:1061-4036
Container-title:Nature Genetics
language:en
Short-container-title:Nat Genet

Author:

Lafreniére Ronald G.,Rochefort Daniel L.,Chrétien Nathalie,Rommens Johanna M.,Cochius Jeffrey I.,Kälviäinen Reetta,Nousiainen Unto,Patry George,Farrell Kevin,Söderfeldt Birgitta,Federico Antonio,Hale Bradford R.,Cossio Otto Hernandez,Sørensen Troels,Pouliot Marc A.,Kmiec Tomasz,Uldall Peter,Janszky József,Pranzatelli Michael R.,Andermann Frederick,Andermann Eva,Rouleau Guy A.

Publisher

Springer Science and Business Media LLC

Subject

Genetics

Link

http://www.nature.com/articles/ng0397-298.pdf

Reference20 articles.

1. Marseille Consensus Group. Classification of progressive myoclonus epilepsies and related disorders. Ann. Neurol. 28, 113–116 (1990).

2. Pennacchio, L.A. et al. Mutations in the gene encoding cystatin B in progressive myoclonus epilepsy (EPM1). Science 271, 1731–1734 (1996).

3. Cochius, J.I. et al. Unverricht-Lundborg disease: absence of nonallelic genetic heterogeneity. Ann. Neurol. 34, 739–741 (1993).

4. Lafrenière, R.G. de Jong, P.J. & Rouleau, G.A. A 405-kb cosmid contig and Hindlll restriction map of the progressive myoclonus epilepsy type 1 (EPM1) candidate region in 21q22.3. Genomics 29, 288–290 (1995).

5. Genton, P. Michelucci, R. Tassinari, C.A. & Roger, J. The Ramsey Hunt syndrome revisited: Mediterranean myoclonus versus mitochondrial encephalomyopathy with ragged-red fibers and Baltic myoclonus. Acta Neurol. Scand. 81, 8–15 (1990).

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