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Items: 1 to 20 of 95

1.
Kctd7 deficiency induces myoclonic seizures associated with Purkinje cell death and microvascular defects
Justine H. Liang, Jonathan Alevy, Viktor Akhanov, Ryan Seo, Cory A. Massey, Danye Jiang, Joy Zhou, Roy V. Sillitoe, Jeffrey L. Noebels, Melanie A. Samuel
Dis Model Mech. 2022 Sep 1; 15(9): dmm049642. Published online 2022 Sep 13. doi: 10.1242/dmm.049642
PMCID:
PMC9509889
Article
2.
The Effectiveness of Perampanel for Myoclonic Seizures in Down Syndrome with Isodicentric Chromosome 21
Koji Obara, Tsuyoshi Imota, Shigeo Mamiya, Itaru Toyoshima
Case Rep Neurol. 2020 Sep-Dec; 12(3): 270–275. Published online 2020 Sep 10. doi: 10.1159/000508357
PMCID:
PMC7548920
ArticlePDF–445K
3.
Generalized Epilepsy and Myoclonic Seizures in 22q11.2 Deletion Syndrome
Vincent Strehlow, Marielle E.M. Swinkels, Rhys H. Thomas, Nora Rapps, Steffen Syrbe, Thomas Dorn, Johannes R. Lemke
Mol Syndromol. 2016 Sep; 7(4): 239–246. Published online 2016 Aug 24. doi: 10.1159/000448445
PMCID:
PMC5073659
ArticlePDF–562K
4.
Intractable myoclonic seizures in an allogeneic stem cell transplant recipient: A rare case of myoclonic epilepsy
Anna Robuccio, Paddy Ssentongo, Michael D. Sather, David F. Claxton, Frank G. Gilliam
Epilepsy Behav Case Rep. 2015; 4: 48–51. Published online 2015 Aug 8. doi: 10.1016/j.ebcr.2015.06.005
PMCID:
PMC4536288
ArticlePDF–684K
5.
Myoclonic seizures in a preterm baby: is this a presentation of venlafaxine withdrawal?
Althaf Ansary, Samuel Ibhanesebhor, Chikkanayakanahalli Manjunatha
Singapore Med J. 2014 Apr; 55(4): e57–e59. doi: 10.11622/smedj.2014061
PMCID:
PMC4291954
ArticlePDF–697K
6.
Upper cervical chiropractic care for a 25-year-old woman with myoclonic seizures
Todd A. Hubbard, Casey A. Crisp, Brett Vowles
J Chiropr Med. 2010 Jun; 9(2): 90–94. doi: 10.1016/j.jcm.2010.03.001
PMCID:
PMC2943656
ArticlePDF–403K
7.
Lgi1 null mutant mice exhibit myoclonic seizures and CA1 neuronal hyperexcitability
Y. Eugene Yu, Lei Wen, Jeane Silva, Zhongyou Li, Karen Head, Khalid Sossey-Alaoui, Annie Pao, Lin Mei, John K. Cowell
Hum Mol Genet. 2010 May 1; 19(9): 1702–1711. Published online 2010 Feb 3. doi: 10.1093/hmg/ddq047
PMCID:
PMC2850618
ArticlePDF–296K
8.
A Case of Propofol-Induced Delayed-Onset Refractory Myoclonic Seizures
Hyung Won Jeon, Ji Hye Kang, Hyun Sook Kim, Hee Young Jo, Sang-Ho Kim
J Clin Neurol. 2007 Sep; 3(3): 154–157. Published online 2007 Sep 20. doi: 10.3988/jcn.2007.3.3.154
PMCID:
PMC2686843
ArticlePDF–996K
9.
Treatment of myoclonic seizures in patients with juvenile myoclonic epilepsy
Stéphane Auvin
Neuropsychiatr Dis Treat. 2007 Dec; 3(6): 729–734. doi: 10.2147/ndt.s1107
PMCID:
PMC2656314
ArticlePDF–70K
10.
Long-term outcome of unilateral deep brain stimulation of the subthalamic nucleus for a patient with drug-resistant focal myoclonic seizure
Xueyuan Wang, Jialin Du, Di Wang, Cuiping Xu, Zhiwei Ren, Yuping Wang, Yongjie Li, Tao Yu, Liankun Ren
Ann Transl Med. 2020 Jan; 8(1): 18. doi: 10.21037/atm.2019.12.43
PMCID:
PMC6995734
ArticlePDF–603K
11.
Myoclonic seizure prior to diagnosis of chronic toxic encephalopathy: a case report
Wim L. C. Van Hooste
J Med Case Rep. 2017; 11: 36. Published online 2017 Feb 7. doi: 10.1186/s13256-016-1188-9
PMCID:
PMC5296961
ArticlePDF–324K
12.
Ictal sinus pause and myoclonic seizure in a child
Hye Ryun Kim, Gun-Ha Kim, So-Hee Eun, Baik-Lin Eun, Jung Hye Byeon
Korean J Pediatr. 2016 Nov; 59(Suppl 1): S129–S132. Published online 2016 Nov 30. doi: 10.3345/kjp.2016.59.11.S129
PMCID:
PMC5177695
ArticlePDF–636K
13.
Clinical and electroencephalogram characteristics of methylmalonic acidemia with MMACHC and MUT gene mutations
Yujun Yuan, Ying Ma, Qiong Wu, Liang Huo, Chun-Feng Liu, Xueyan Liu
BMC Pediatr. 2024; 24: 119. Published online 2024 Feb 14. doi: 10.1186/s12887-024-04559-8
PMCID:
PMC10865547
ArticlePDF–3.9M
14.
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
ArticlePDF–1.2M
15.
“Progressive myoclonic ataxia and developmental/epileptic encephalopathy associated with a novel homozygous mutation in TCN2 gene”
Mohammed Ahmed Mohammed Oshi, Jaber Alfaifi, Youssef Ali M. Alqahtani, Mohammed Fahad Aljabri, Naglaa M. Kamal, Jwaher Althopaity, Khalid A. Althobaiti, Abdullah M. Almalki, Salma A. S. Abosabie, Sara A. Abosabie, Hanan Sakr Sherbiny, Saif K. Almanjoomi, Enas A. A. Abdallah
Mol Genet Genomic Med. 2024 Jan; 12(1): e2282. Published online 2023 Oct 6. doi: 10.1002/mgg3.2282
PMCID:
PMC10767415
ArticlePDF–708K
16.
A homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease
Elisa Calì, Sheng-Jia Lin, Clarissa Rocca, Yavuz Sahin, Aisha Al Shamsi, Salima El Chehadeh, Myriam Chaabouni, Kshitij Mankad, Evangelia Galanaki, Stephanie Efthymiou, Sniya Sudhakar, Alkyoni Athanasiou-Fragkouli, Tamer Çelik, Nejat Narlı, Sebastiano Bianca, David Murphy, Francisco Martins De Carvalho Moreira, SYNaPS Study Group, Andrea Accogli, Cassidy Petree, Kevin Huang, Kamel Monastiri, Masoud Edizadeh, Rosaria Nardello, Marzia Ognibene, Patrizia De Marco, Martino Ruggieri, Federico Zara, Pasquale Striano, Yavuz Şahin, Lihadh Al-Gazali, Marie Therese Abi Warde, Benedicte Gerard, Giovanni Zifarelli, Christian Beetz, Sara Fortuna, Miguel Soler, Enza Maria Valente, Gaurav Varshney, Reza Maroofian, Vincenzo Salpietro, Henry Houlden
Genet Med. 2022 Oct; 24(10): 2194–2203. doi: 10.1016/j.gim.2022.07.013
PMCID:
PMC10519206
ArticlePDF–1.3M
17.
TRIT1 defect leads to a recognizable phenotype of myoclonic epilepsy, speech delay, strabismus, progressive spasticity, and normal lactate levels
Ewout Muylle, Huafang Jiang, Christin Johnsen, Seul Kee Byeon, Wasantha Ranatunga, Kishore Garapati, Roman M. Zenka, Graeme Preston, Akhilesh Pandey, Tamas Kozicz, Fang Fang, Eva Morava
J Inherit Metab Dis. 2022 Nov; 45(6): 1039–1047. Published online 2022 Sep 21. doi: 10.1002/jimd.12550
PMCID:
PMC9826177
ArticlePDF–1.9M
18.
Pattern and etiology of early childhood epilepsy: An Experience at a tertiary care University Center
Amal Y. Kentab, Shumukh Al Bulayhi, Muddathir H. Hamad, Ali Al Wadei, Fahad A. Bashiri
Neurosciences (Riyadh) 2022 Oct; 27(4): 244–250. doi: 10.17712/nsj.2022.4.20220001
PMCID:
PMC9749570
ArticlePDF–443K
19.
De novo truncating NOVA2 variants affect alternative splicing and lead to heterogeneous neurodevelopmental phenotypes
Marcello Scala, Nathalie Drouot, Suzanna C. MacLennan, Marja W. Wessels, Magdalena Krygier, Lisa Pavinato, Aida Telegrafi, Stella A. de Man, Marjon van Slegtenhorst, Michele Iacomino, Francesca Madia, Paolo Scudieri, Paolo Uva, Thea Giacomini, Giulia Nobile, Maria Margherita Mancardi, Ganna Balagura, Giovanni Battista Galloni, Alberto Verrotti, Muhammad Umair, Amjad Khan, Jan Liebelt, Miriam Schmidts, Thorsten Langer, Alfredo Brusco, Beata S. Lipska‐Ziętkiewicz, Jasper J. Saris, Nicolas Charlet‐Berguerand, Federico Zara, Pasquale Striano, Amélie Piton
Hum Mutat. 2022 Sep; 43(9): 1299–1313. Published online 2022 Jun 8. doi: 10.1002/humu.24414
PMCID:
PMC9543825
ArticlePDF–4.6M
20.
Effect of fenfluramine on seizures and comorbidities in SCN8A‐developmental and epileptic encephalopathy: A case series
Ángel Aledo‐Serrano, Borja Cabal‐Paz, Elena Gardella, Pablo Gómez‐Porro, Otilia Martínez‐Múgica, Alvaro Beltrán‐Corbellini, Rafael Toledano, Irene García‐Morales, Antonio Gil‐Nagel
Epilepsia Open. 2022 Sep; 7(3): 525–531. Published online 2022 Jul 20. doi: 10.1002/epi4.12623
PMCID:
PMC9436303
ArticlePDF–384K

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