scholarly journals A Case of Unverricht-Lundborg Type Progressive Myoclonus Epilepsy Confirmed by Cystatin B Gene Mutation

Epilepsia ◽  
2000 ◽  
Vol 41 (s9) ◽  
pp. 57-57
Author(s):  
Yasuko Yamatogi ◽  
Akira Sano ◽  
Akio Tsutsui ◽  
Takako Misaki
Keyword(s):  
Gene Mutation ◽  
Cystatin B ◽  
Progressive Myoclonus Epilepsy ◽  
Myoclonus Epilepsy

Reduced cystatin B activity correlates with enhanced cathepsin activity in progressive myoclonus epilepsy

2002 ◽  
Vol 34 (5) ◽  
pp. 380-385 ◽  
Author(s):  
Riitta Rinne ◽  
Pekka Saukko ◽  
Mikko Järvinen ◽  
Anna-Elina Lehesjoki
Keyword(s):  
Cystatin B ◽  
Progressive Myoclonus Epilepsy ◽  
Cathepsin Activity ◽  
Myoclonus Epilepsy

scholarly journals Impaired osteoclast homeostasis in the cystatin B-deficient mouse model of progressive myoclonus epilepsy

Bone Reports ◽  
2015 ◽  
Vol 3 ◽  
pp. 76-82 ◽  
Author(s):  
Otto Manninen ◽  
Tero Puolakkainen ◽  
Jemina Lehto ◽  
Elina Harittu ◽  
Aki Kallonen ◽  
...  
Keyword(s):  
Mouse Model ◽  
Deficient Mouse ◽  
Cystatin B ◽  
Progressive Myoclonus Epilepsy ◽  
Myoclonus Epilepsy

scholarly journals Loss of lysosomal association of cystatin B proteins representing progressive myoclonus epilepsy, EPM1, mutations

2004 ◽  
Vol 13 (2) ◽  
pp. 208-215 ◽  
Author(s):  
Kirsi Alakurtti ◽  
Ekkehard Weber ◽  
Riitta Rinne ◽  
Gerit Theil ◽  
Gerrit-Jan de Haan ◽  
...  
Keyword(s):  
Cystatin B ◽  
Progressive Myoclonus Epilepsy ◽  
Myoclonus Epilepsy

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

1997 ◽  
Vol 15 (3) ◽  
pp. 298-302 ◽  
Author(s):  
Ronald G. Lafreniére ◽  
Daniel L. Rochefort ◽  
Nathalie Chrétien ◽  
Johanna M. Rommens ◽  
Jeffrey I. Cochius ◽  
...  
Keyword(s):  
Common Mutation ◽  
Cystatin B ◽  
Progressive Myoclonus Epilepsy ◽  
Myoclonus Epilepsy ◽  
Flanking Region

scholarly journals Cystatin C Rescues Degenerating Neurons in a Cystatin B-Knockout Mouse Model of Progressive Myoclonus Epilepsy

2010 ◽  
Vol 177 (5) ◽  
pp. 2256-2267 ◽  
Author(s):  
Gurjinder Kaur ◽  
Panaiyur Mohan ◽  
Monika Pawlik ◽  
Steven DeRosa ◽  
Jay Fajiculay ◽  
...  
Keyword(s):  
Mouse Model ◽  
Cystatin C ◽  
Knockout Mouse ◽  
Knockout Mouse Model ◽  
Cystatin B ◽  
Progressive Myoclonus Epilepsy ◽  
Myoclonus Epilepsy
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