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Select item 63187651.

Early-onset infant epileptic encephalopathy associated with a de novo PPP3CA gene mutation

Yanyan Qian, Bingbing Wu, Yulan Lu, Xinran Dong, Qian Qin, Wenhao Zhou, Huijun Wang

Cold Spring Harb Mol Case Stud. 2018 Dec; 4(6): a002949. doi: 10.1101/mcs.a002949

PMCID:: PMC6318765

Article PDF–3.7M

Select item 109529442.

Recognition and epileptology of protracted CLN3 disease

Jillian M. Cameron, John A. Damiano, Bronwyn Grinton, Patrick W. Carney, Penny McKelvie, Peter Silbert, Nicholas Lawn, Ingrid E. Scheffer, Karen L. Oliver, Michael S. Hildebrand, Samuel F. Berkovic

Epilepsia. 2023 Jul; 64(7): 1833–1841. Published online 2023 Apr 27. doi: 10.1111/epi.17616

PMCID:: PMC10952944

Article PDF–1.1M

Select item 109475803.

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 108975154.

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 108881285.

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 108639256.

Seizures and electrophysiological features in familial cortical myoclonic tremor with epilepsy 1

Yao Ding, Zhidong Cen, Yang Zheng, Xia Qiu, Yumao Ye, Xinhui Chen, Lingli Hu, Bo Wang, Zhongjin Wang, Houmin Yin, Chunhong Shen, Wenjie Ming, Yi Ge, Fei Xie, Dehao Yang, Zhiyuan Ouyang, Haotian Wang, Sheng Wu, Meiping Ding, Shuang Wang, Wei Luo

Ann Clin Transl Neurol. 2024 Feb; 11(2): 414–423. Published online 2023 Dec 7. doi: 10.1002/acn3.51961

PMCID:: PMC10863925

Article PDF–1.3M

Select item 108461147.

Clinical Picture of a Patient With a Novel PSEN1 Mutation (L424V)

A. Robles, M.J. Sobrido, M. García-Murias, J.M. Prieto, M. Lema, D. Santos, M. Paramo

Am J Alzheimers Dis Other Demen. 2009 Feb-Mar; 24(1): 40–45. doi: 10.1177/1533317508324272

PMCID:: PMC10846114

Summary PDF–413K

Select item 108143158.

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 106824769.

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 1060607010.

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 1048049311.

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

Article

Select item 1029725112.

Familial Adult Myoclonus Epilepsy: A Non-Coding Repeat Expansion Disorder of Cerebellar–Thalamic–Cortical Loop

Claudia Cuccurullo, Pasquale Striano, Antonietta Coppola

Cells. 2023 Jun; 12(12): 1617. Published online 2023 Jun 13. doi: 10.3390/cells12121617

PMCID:: PMC10297251

Article PDF–1.5M

Select item 1028075513.

Eficacia de la zonisamida en un caso de enfermedad de Lafora y breve revisión en la epilepsia mioclónica progresiva

Eduardo Rubio-Nazábal, Purificación Álvarez-Pérez, Carlos Cores-Bartolomé, Teresa Lema-Facal

Rev Neurol. 2022; 75(6): 159–163. Spanish. Published online 2022 Sep 16. doi: 10.33588/rn.7506.2021397

PMCID:: PMC10280755

Article PDF–1.1M

Select item 1023557914.

Progressive myoclonus epilepsies due to SEMA6B mutations. New variants and appraisal of published phenotypes

Barbara Castellotti, Laura Canafoglia, Elena Freri, Maria Tappatà, Giuliana Messina, Stefania Magri, Jacopo C. DiFrancesco, Martina Fanella, Carlo Di Bonaventura, Alessandra Morano, Tiziana Granata, Cinzia Gellera, Silvana Franceschetti, Roberto Michelucci

Epilepsia Open. 2023 Jun; 8(2): 645–650. Published online 2023 Feb 9. doi: 10.1002/epi4.12697

PMCID:: PMC10235579

Article PDF–3.6M

Select item 1023557015.

A novel FAME1 repeat configuration in a European family identified using a combined genomics approach

Tatiana Maroilley, Meng‐Han Tsai, Rumika Mascarenhas, Catherine Diao, Maryam Khanbabaei, Sabine Kaya, Christel Depienne, Maja Tarailo‐Graovac, Karl Martin Klein

Epilepsia Open. 2023 Jun; 8(2): 659–665. Published online 2023 Feb 16. doi: 10.1002/epi4.12702

PMCID:: PMC10235570

Article PDF–7.3M

Select item 1003316416.

Clinical and Neurophysiologic Phenotypes in Neonates With BRAT1 Encephalopathy

Evelina Carapancea, Marie-Coralie Cornet, Mathieu Milh, Lucrezia De Cosmo, Eric J. Huang, Tiziana Granata, Pasquale Striano, Berten Ceulemans, Anja Stein, Deborah Morris-Rosendahl, Greta Conti, Nipa Mitra, F. Lucy Raymond, David H. Rowitch, Roberta Solazzi, Fabiana Vercellino, Paola De Liso, Gianluca D'Onofrio, Clementina Boniver, Olivier Danhaive, Katherine Carkeek, Vincenzo Salpietro, Sarah Weckhuysen, Marny Fedrigo, Annalisa Angelini, Barbara Castellotti, Damien Lederer, Valerie Benoit, Federico Raviglione, Renzo Guerrini, Robertino Dilena, Maria Roberta Cilio

Neurology. 2023 Mar 21; 100(12): e1234–e1247. doi: 10.1212/WNL.0000000000206755

PMCID:: PMC10033164

Article PDF–889K

Select item 1002684717.

EPILEPSIES MYOCLONIQUES PROGRESSIVES AU SERVICE DE NEUROLOGIE DU CENTRE HOSPITALIER UNIVERSITAIRE DU POINT “G”

M E Dembélé, L Cissé, S Diarra, A Yalcouyé, A Taméga, A Bocoum, A B Maïga, S H Diallo, T Coulibaly, S Diallo, A Simaga, C Grunseich, M Kéita, MB Coulibaly, KH Fischbeck, Y Maiga, C O Guinto, G Landouré

Mali Med. Author manuscript; available in PMC 2023 Mar 20.French.

Published in final edited form as: Mali Med. 2022 Jul 8; 37(2): 17–21.

PMCID:: PMC10026847

Article PDF–350K

Select item 986557218.

Carlos Romá-Mateo, Sheila Lorente-Pozo, Lucía Márquez-Thibaut, Mireia Moreno-Estellés, Concepción Garcés, Daymé González, Marcos Lahuerta, Carmen Aguado, José Luis García-Giménez, Pascual Sanz, Federico V. Pallardó

Int J Mol Sci. 2023 Jan; 24(2): 1089. Published online 2023 Jan 6. doi: 10.3390/ijms24021089

PMCID:: PMC9865572

Article PDF–1.2M

Select item 965599219.

Insights into the Genetic Profile of Two Siblings Affected by Unverricht-Lundborg Disease Using Patient-Derived hiPSCs

Valeria Lucchino, Luana Scaramuzzino, Stefania Scalise, Michela Lo Conte, Clara Zannino, Giorgia Lucia Benedetto, Umberto Aguglia, Edoardo Ferlazzo, Giovanni Cuda, Elvira Immacolata Parrotta

Cells. 2022 Nov; 11(21): 3491. Published online 2022 Nov 4. doi: 10.3390/cells11213491

PMCID:: PMC9655992

Article PDF–2.1M

Select item 952814020.

Lafora disease: a case report

Naim Zeka, Leonore Zogaj, Abdurrahim Gerguri, Ramush Bejiqi, Ragip Ratkoceri, Arlinda Maloku, Aferdita Mustafa, Labinot Shahini, Jeton Maxharaj

J Med Case Rep. 2022; 16: 360. Published online 2022 Oct 3. doi: 10.1186/s13256-022-03537-x

PMCID:: PMC9528140

Article PDF–1.5M

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