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Select item 83203281.

Miglustat Therapy for SCARB2-Associated Action Myoclonus–Renal Failure Syndrome

Imran H. Quraishi, Anna M. Szekely, Anushree C. Shirali, Pramod K. Mistry, Lawrence J. Hirsch

Neurol Genet. 2021 Oct; 7(5): e614. Published online 2021 Jul 28. doi: 10.1212/NXG.0000000000000614

PMCID:: PMC8320328

Article PDF–468K

Select item 39274712.

Action myoclonus-renal failure syndrome: diagnostic applications of activity-based probes and lipid analysis

Paulo Gaspar, Wouter W. Kallemeijn, Anneke Strijland, Saskia Scheij, Marco Van Eijk, Jan Aten, Herman S. Overkleeft, Andrea Balreira, Friederike Zunke, Michael Schwake, Clara Sá Miranda, Johannes M. F. G. Aerts

J Lipid Res. 2014 Jan; 55(1): 138–145. doi: 10.1194/jlr.M043802

PMCID:: PMC3927471

Article PDF–819K

Select item 32226073.

Novel SCARB2 mutation in action myoclonus-renal failure syndrome and evaluation of SCARB2 mutations in isolated AMRF features

Franziska Hopfner, Barbara Schormair, Franziska Knauf, Achim Berthele, Thomas R Tölle, Ralf Baron, Christoph Maier, Rolf-Detlef Treede, Andreas Binder, Claudia Sommer, Christian Maihöfner, Wolfram Kunz, Friedrich Zimprich, Uwe Heemann, Arne Pfeufer, Michael Näbauer, Stefan Kääb, Barbara Nowak, Christian Gieger, Peter Lichtner, Claudia Trenkwalder, Konrad Oexle, Juliane Winkelmann

BMC Neurol. 2011; 11: 134. Published online 2011 Oct 27. doi: 10.1186/1471-2377-11-134

PMCID:: PMC3222607

Article PDF–715K

Select item 48332654.

Characterization of the complex formed by β-glucocerebrosidase and the lysosomal integral membrane protein type-2

Friederike Zunke, Lisa Andresen, Sophia Wesseler, Johann Groth, Philipp Arnold, Michelle Rothaug, Joseph R. Mazzulli, Dimitri Krainc, Judith Blanz, Paul Saftig, Michael Schwake

Proc Natl Acad Sci U S A. 2016 Apr 5; 113(14): 3791–3796. Published online 2016 Mar 21. doi: 10.1073/pnas.1514005113

PMCID:: PMC4833265

Article PDF–1.6M

Select item 24272875.

Array-Based Gene Discovery with Three Unrelated Subjects Shows SCARB2/LIMP-2 Deficiency Causes Myoclonus Epilepsy and Glomerulosclerosis

Samuel F. Berkovic, Leanne M. Dibbens, Alicia Oshlack, Jeremy D. Silver, Marina Katerelos, Danya F. Vears, Renate Lüllmann-Rauch, Judith Blanz, Ke Wei Zhang, Jim Stankovich, Renate M. Kalnins, John P. Dowling, Eva Andermann, Frederick Andermann, Enrico Faldini, Rudi D'Hooge, Lata Vadlamudi, Richard A. Macdonell, Bree L. Hodgson, Marta A. Bayly, Judy Savige, John C. Mulley, Gordon K. Smyth, David A. Power, Paul Saftig, Melanie Bahlo

Am J Hum Genet. 2008 Mar 3; 82(3): 673–684. Published online 2008 Feb 29. doi: 10.1016/j.ajhg.2007.12.019

PMCID:: PMC2427287

Article PDF–1.2M

Select item 60326846.

Identification of a Novel Homozygous Splice-Site Mutation in SCARB2 that Causes Progressive Myoclonus Epilepsy with or without Renal Failure

Jin He, Han Lin, Jin-Jing Li, Hui-Zhen Su, Dan-Ni Wang, Yu Lin, Ning Wang, Wan-Jin Chen

Chin Med J (Engl) 2018 Jul 5; 131(13): 1575–1583. doi: 10.4103/0366-6999.235113

PMCID:: PMC6032684

Article PDF–1.9M

Select item 39249587.

Lysosomal Integral Membrane Protein-2: A New Player in Lysosome-Related Pathology

Ashley Gonzalez, Mark Valeiras, Ellen Sidransky, Nahid Tayebi

Mol Genet Metab. Author manuscript; available in PMC 2015 Feb 1.

Published in final edited form as: Mol Genet Metab. 2014 Feb; 111(2): 84–91. Published online 2013 Dec 11. doi: 10.1016/j.ymgme.2013.12.005

PMCID:: PMC3924958

Article PDF–1.0M

Select item 109526468.

History of familial adult myoclonus epilepsy/benign adult familial myoclonic epilepsy around the world

Samuel F. Berkovic, Pasquale Striano, Shoji Tsuji

Epilepsia. 2023 Jun; 64(Suppl 1): S3–S8. Published online 2023 Feb 10. doi: 10.1111/epi.17519

PMCID:: PMC10952646

Article PDF–374K

Select item 109475809.

ILAE Genetics Literacy series: Progressive myoclonus epilepsies

Jillian M. Cameron, Colin A. Ellis, Samuel F. Berkovic, for the ILAE Genetics Commission, the ILAE Genetic Literacy Task Force

Epileptic Disord. 2023 Oct; 25(5): 670–680. Published online 2023 Sep 6. doi: 10.1002/epd2.20152

PMCID:: PMC10947580

Article PDF–603K

Select item 1089760110.

Opening the K_V3.1 gates: A therapeutic strategy for progressive myoclonus epilepsy type 7?

Maria A. Gandini, Gerald W. Zamponi

Cell Rep Med. 2024 Feb 20; 5(2): 101425. Published online 2024 Feb 20. doi: 10.1016/j.xcrm.2024.101425

PMCID:: PMC10897601

Article PDF–1.8M

Select item 1089751511.

Targeted therapy improves cellular dysfunction, ataxia, and seizure susceptibility in a model of a progressive myoclonus epilepsy

Huijie Feng, Jerome Clatot, Keisuke Kaneko, Marco Flores-Mendez, Eric R. Wengert, Carly Koutcher, Emily Hoddeson, Emily Lopez, Demetrius Lee, Leroy Arias, Qiansheng Liang, Xiaohong Zhang, Ala Somarowthu, Manuel Covarrubias, Martin J. Gunthorpe, Charles H. Large, Naiara Akizu, Ethan M. Goldberg

Cell Rep Med. 2024 Feb 20; 5(2): 101389. Published online 2024 Jan 23. doi: 10.1016/j.xcrm.2023.101389

PMCID:: PMC10897515

Article PDF–7.0M

Select item 1088812812.

Progressive Myoclonus Epilepsy: A Scoping Review of Diagnostic, Phenotypic and Therapeutic Advances

Vincent Zimmern, Berge Minassian

Genes (Basel) 2024 Feb; 15(2): 171. Published online 2024 Jan 27. doi: 10.3390/genes15020171

PMCID:: PMC10888128

Article PDF–752K

Select item 1081502113.

Clinical Signs in 166 Beagles with Different Genotypes of Lafora

Thomas Flegel, Christine Dirauf, Alexandra Kehl, Josephine Dietzel, Annette Holtdirk, Ines Langbein-Detsch, Elisabeth Müller

Genes (Basel) 2024 Jan; 15(1): 122. Published online 2024 Jan 19. doi: 10.3390/genes15010122

PMCID:: PMC10815021

Article PDF–491K

Select item 1081431514.

The Roles of Cystatin B in the Brain and Pathophysiological Mechanisms of Progressive Myoclonic Epilepsy Type 1

Shekhar Singh, Riikka H. Hämäläinen

Cells. 2024 Jan; 13(2): 170. Published online 2024 Jan 16. doi: 10.3390/cells13020170

PMCID:: PMC10814315

Article PDF–1.2M

Select item 1068447515.

Gys1 Antisense Therapy Prevents Disease-Driving Aggregates and Epileptiform Discharges in a Lafora Disease Mouse Model

Katherine J. Donohue, Bethany Fitzsimmons, Ronald C. Bruntz, Kia H. Markussen, Lyndsay E. A. Young, Harrison A. Clarke, Peyton T. Coburn, Laiken E. Griffith, William Sanders, Jack Klier, Sara N. Burke, Andrew P. Maurer, Berge A. Minassian, Ramon C. Sun, Holly B. Kordasiewisz, Matthew S. Gentry

Neurotherapeutics. 2023 Oct; 20(6): 1808–1819. Published online 2023 Sep 12. doi: 10.1007/s13311-023-01434-9

PMCID:: PMC10684475

Article PDF–2.2M

Select item 1068269916.

P-Rex1 is a novel substrate of the E3 ubiquitin ligase Malin associated with Lafora disease

L. Kumarasinghe, M.A. Garcia-Gimeno, J. Ramirez, U. Mayor, JL. Zugaza, P Sanz

Neurobiol Dis. Author manuscript; available in PMC 2023 Nov 28.

Published in final edited form as: Neurobiol Dis. 2023 Feb; 177: 105998. Published online 2023 Jan 10. doi: 10.1016/j.nbd.2023.105998

PMCID:: PMC10682699

Article PDF–1.7M

Select item 1068247617.

TNF and IL6/Jak2 signaling pathways are the main contributors of the glia-derived neuroinflammation present in Lafora disease, a fatal form of progressive myoclonus epilepsy

Teresa Rubio, Rosa Viana, Mireia Moreno-Estellés, Ángela Campos-Rodríguez, Pascual Sanz

Neurobiol Dis. Author manuscript; available in PMC 2023 Nov 28.

Published in final edited form as: Neurobiol Dis. 2023 Jan; 176: 105964. Published online 2022 Dec 14. doi: 10.1016/j.nbd.2022.105964

PMCID:: PMC10682476

Article PDF–2.3M

Select item 1060607018.

Novel Genetic and Phenotypic Expansion in GOSR2-Related Progressive Myoclonus Epilepsy

Lea Hentrich, Mered Parnes, Timothy Edward Lotze, Rohini Coorg, Tom J. de Koning, Kha M. Nguyen, Calvin K. Yip, Heinz Jungbluth, Anne Koy, Hormos Salimi Dafsari

Genes (Basel) 2023 Oct; 14(10): 1860. Published online 2023 Sep 25. doi: 10.3390/genes14101860

PMCID:: PMC10606070

Article PDF–4.4M

Select item 1051061719.

A Case of Lafora Disease Diagnosed by Axillary Skin Biopsy

Elife Kımıloğlu, Pelin AKBAŞ, Özgül Esen Öre, Çağla Turan

Turk Patoloji Derg. 2021; 37(3): 264–265. Published online 2021 Sep 15. doi: 10.5146/tjpath.2021.01522

PMCID:: PMC10510617

Article PDF–615K

Select item 1048049320.

The involvement of Purkinje cells in progressive myoclonic epilepsy: Focus on neuronal ceroid lipofuscinosis

Sara Bernardi, Federica Gemignani, Maria Marchese

Neurobiol Dis. 2023 Sep; 185: 106258. doi: 10.1016/j.nbd.2023.106258

PMCID:: PMC10480493

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