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Items: 1 to 20 of 158

1.
A New Variant of the IER3IP1 Gene: The First Case of Microcephaly, Epilepsy, and Diabetes Syndrome 1 from Turkey
Elif Söbü, Gül Demet Kaya Özçora, Elif Yılmaz Güleç, Bahtiyar Şahinoğlu, Feride Tahmiscioğlu Bucak
J Clin Res Pediatr Endocrinol. 2024 Sep; 16(3): 344–350. Published online 2024 Sep 4. doi: 10.4274/jcrpe.galenos.2022.2022-8-12
PMCID:
PMC11590771
AbstractArticlePDF–1.3M
2.
Association of SCN1A Polymorphisms rs3812718 and rs2298771 with Epilepsy
Martha-Spyridoula Katsarou, Anna Siatouni, Danae Tsikrika, Elena Kokkiou, Maria Stefanatou, Anastasia Verentzioti, Athanasia Alexoudi, Stylianos Gatzonis, Nikolaos Drakoulis, Maria Papasavva
Genes (Basel) 2024 Sep; 15(9): 1224. Published online 2024 Sep 19. doi: 10.3390/genes15091224
PMCID:
PMC11431656
AbstractArticlePDF–233K
3.
Preictal dysfunctions of inhibitory interneurons paradoxically lead to their rebound hyperactivity and to low-voltage-fast onset seizures in Dravet syndrome
Fabrizio Capitano, Mathieu Kuchenbuch, Jennifer Lavigne, Hava Chaptoukaev, Maria A. Zuluaga, Marco Lorenzi, Rima Nabbout, Massimo Mantegazza
Proc Natl Acad Sci U S A. 2024 Jun 4; 121(23): e2316364121. Published online 2024 May 29. doi: 10.1073/pnas.2316364121
PMCID:
PMC11161744
AbstractArticlePDF–3.5M
4.
Clinical, genetic, and cognitive correlates of seizure occurrences in Phelan-McDermid syndrome
Tess Levy, Jacob Gluckman, Paige M. Siper, Danielle Halpern, Jessica Zweifach, Rajna Filip-Dhima, J. Lloyd Holder, Jr., M. Pilar Trelles, Kristina Johnson, Jonathan A. Bernstein, Elizabeth Berry-Kravis, Craig M. Powell, Latha Valluripalli Soorya, Audrey Thurm, Joseph D. Buxbaum, Mustafa Sahin, Alexander Kolevzon, Siddharth Srivastava, on behalf of the Developmental Synaptopathies Consortium
J Neurodev Disord. 2024; 16: 25. Published online 2024 May 10. doi: 10.1186/s11689-024-09541-0
PMCID:
PMC11084001
AbstractArticlePDF–1.1M
5.
Expanded clinical phenotype and untargeted metabolomics analysis in RARS2-related mitochondrial disorder: a case report
Ameya S. Walimbe, Keren Machol, Stephen F. Kralik, Elizabeth A. Mizerik, Yoel Gofin, Mir Reza Bekheirnia, Charul Gijavanekar, Sarah H. Elsea, Lisa T. Emrick, Fernando Scaglia
BMC Neurol. 2024; 24: 87. Published online 2024 Mar 4. doi: 10.1186/s12883-024-03571-w
PMCID:
PMC10910770
AbstractArticlePDF–1.5M
6.
Anti-seizure gene therapy for focal cortical dysplasia
Amanda Almacellas Barbanoj, Robert T Graham, Benito Maffei, Jenna C Carpenter, Marco Leite, Justin Hoke, Felisia Hardjo, James Scott-Solache, Christos Chimonides, Stephanie Schorge, Dimitri M Kullmann, Vincent Magloire, Gabriele Lignani
Brain. 2024 Feb; 147(2): 542–553. Published online 2023 Dec 15. doi: 10.1093/brain/awad387
PMCID:
PMC10834237
AbstractArticlePDF–1.2M
7.
Genetic Epilepsies and Developmental Epileptic Encephalopathies with Early Onset: A Multicenter Study
Benedetta Cavirani, Carlotta Spagnoli, Stefano Giuseppe Caraffi, Anna Cavalli, Carlo Alberto Cesaroni, Gianni Cutillo, Valentina De Giorgis, Daniele Frattini, Giulia Bruna Marchetti, Silvia Masnada, Angela Peron, Susanna Rizzi, Costanza Varesio, Luigina Spaccini, Aglaia Vignoli, Maria Paola Canevini, Pierangelo Veggiotti, Livia Garavelli, Carlo Fusco
Int J Mol Sci. 2024 Jan; 25(2): 1248. Published online 2024 Jan 19. doi: 10.3390/ijms25021248
PMCID:
PMC10816990
AbstractArticlePDF–1.6M
8.
Headache Is a Common Aura in Patients with Generalized Seizures
Dong Won Kwack, Dong Wook Kim
J Epilepsy Res. 2023 Dec; 13(2): 51–54. Published online 2023 Dec 31. doi: 10.14581/jer.23008
PMCID:
PMC10783966
AbstractArticlePDF–285K
9.
Epilepsy is an important feature of KBG syndrome associated with poorer developmental outcome
Nathan Buijsse, Floor E. Jansen, Charlotte W. Ockeloen, Marjan J. A. van Kempen, Shimriet Zeidler, Marjolein H. Willemsen, Emanuela Scarano, Sonia Monticone, Evelien Zonneveld‐Huijssoon, Karen J. Low, Allan Bayat, Sanjay M. Sisodiya, Debopam Samanta, Gaetan Lesca, Danielle de Jong, Jaqcues C. Giltay, Nienke E. Verbeek, Tjitske Kleefstra, Eva H. Brilstra, Danique R. M. Vlaskamp
Epilepsia Open. 2023 Dec; 8(4): 1300–1313. Published online 2023 Aug 18. doi: 10.1002/epi4.12799
PMCID:
PMC10690702
AbstractArticlePDF–487K
10.
Plasma Neurofilament Light Chain Is Elevated in Adaptor Protein Complex 4-Related Hereditary Spastic Paraplegia
Julian E. Alecu, Afshin Saffari, Marvin Ziegler, Catherine Jordan, Amy Tam, Soyoung Kim, Edward Leung, Krzysztof Szczaluba, Hanna Mierzewska, Staci D. King, Filippo M. Santorelli, Grace Yoon, Bianca Trombetta, Pia Kivisäkk, Bo Zhang, Mustafa Sahin, Darius Ebrahimi-Fakhari
Mov Disord. Author manuscript; available in PMC 2024 Sep 1.
Published in final edited form as: Mov Disord. 2023 Sep; 38(9): 1742–1750. Published online 2023 Jul 22. doi: 10.1002/mds.29524
PMCID:
PMC10529494
AbstractArticlePDF–640K
11.
Seizure-suppressor genes: Can they help spearhead the discovery of novel therapeutic targets for epilepsy?
Gleice Kelli Silva-Cardoso, Prosper N'Gouemo
Expert Opin Ther Targets. Author manuscript; available in PMC 2024 Aug 22.
Published in final edited form as: Expert Opin Ther Targets. 2023 Jul-Dec; 27(8): 657–664. Published online 2023 Aug 22. doi: 10.1080/14728222.2023.2248375
PMCID:
PMC10528013
AbstractArticlePDF–367K
12.
Fatal leukodystrophy in Costello syndrome: a case report
Virgilio E. Failoc-Rojas, Piero A. Quiroz Ugaz, Dante A. Loconi León, Sandra Zeña-Ñañez
BMC Pediatr. 2023; 23: 374. Published online 2023 Jul 24. doi: 10.1186/s12887-023-04166-z
PMCID:
PMC10364348
AbstractArticlePDF–1.2M
13.
The cerebellum contributes to generalized seizures by altering activity in the ventral posteromedial nucleus
Jaclyn Beckinghausen, Joshua Ortiz-Guzman, Tao Lin, Benjamin Bachman, Luis E. Salazar Leon, Yu Liu, Detlef H. Heck, Benjamin R. Arenkiel, Roy V. Sillitoe
Commun Biol. 2023; 6: 731. Published online 2023 Jul 15. doi: 10.1038/s42003-023-05100-w
Correction in:
Commun Biol. 2024; 7: 186.
PMCID:
PMC10349834
AbstractArticlePDF–5.5M
14.
Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy (SMA-PME): three new cases and review of the mutational spectrum
Ali Najafi, Behnoosh Tasharrofi, Farshid Zandsalimi, Maryam Rasulinezhad, Masood Ghahvechi Akbari, Gholamreza Zamani, Mahmoud Reza Ashrafi, Morteza Heidari
Ital J Pediatr. 2023; 49: 64. Published online 2023 Jun 6. doi: 10.1186/s13052-023-01474-z
PMCID:
PMC10246360
AbstractArticlePDF–1.5M
15.
Focal and generalized onset seizures in children post-COVID (Omicron) recovery: 3 clinical case reports
Tal Bechor Ariel, Ben Ariel, Michael Ben-Acon, Nechama Sharon
Epilepsy Behav Rep. 2023; 23: 100608. Published online 2023 May 26. doi: 10.1016/j.ebr.2023.100608
PMCID:
PMC10219669
AbstractArticlePDF–249K
16.
Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage-Sensing and Pore Domains of KCNH5
Hannah C. Happ, Lynette G. Sadleir, Matthew Zemel, Guillem de Valles-Ibáñez, Michael S. Hildebrand, Allyn McConkie-Rosell, Marie McDonald, Halie May, Tristan Sands, Vimla Aggarwal, Christopher Elder, Timothy Feyma, Allan Bayat, Rikke S. Møller, Christina D. Fenger, Jens Erik Klint Nielsen, Anita N. Datta, Kathleen M. Gorman, Mary D. King, Natalia D. Linhares, Barbara K. Burton, Andrea Paras, Sian Ellard, Julia Rankin, Anju Shukla, Purvi Majethia, Rory J. Olson, Karthik Muthusamy, Lisa A. Schimmenti, Keith Starnes, Lucie Sedláčková, Katalin Štěrbová, Markéta Vlčková, Petra Laššuthová, Alena Jahodová, Brenda E. Porter, Nathalie Couque, Estelle Colin, Clément Prouteau, Corinne Collet, Thomas Smol, Roseline Caumes, Fleur Vansenne, Francesca Bisulli, Laura Licchetta, Richard Person, Erin Torti, Kirsty McWalter, Richard Webster, Elizabeth E. Gerard, Gaetan Lesca, Pierre Szepetowski, Ingrid E. Scheffer, Heather C. Mefford, Gemma L. Carvill
Neurology. 2023 Feb 7; 100(6): e603–e615. doi: 10.1212/WNL.0000000000201492
PMCID:
PMC9946193
AbstractArticlePDF–572K
17.
Retinal Tissue Shows Glial Changes in a Dravet Syndrome Knock-in Mouse Model
Juan J. Salazar, Andrea Satriano, José A. Matamoros, José A. Fernández-Albarral, Elena Salobrar-García, Inés López-Cuenca, Rosa de Hoz, Lidia Sánchez-Puebla, José M. Ramírez, Cristina Alonso, Valentina Satta, Inés Hernández-Fisac, Onintza Sagredo, Ana I. Ramírez
Int J Mol Sci. 2023 Feb; 24(3): 2727. Published online 2023 Feb 1. doi: 10.3390/ijms24032727
PMCID:
PMC9916888
AbstractArticlePDF–3.8M
18.
mTORC2 Inhibition Improves Morphological Effects of PTEN Loss, But Does Not Correct Synaptic Dysfunction or Prevent Seizures
Erin R. Cullen, Kamran Tariq, Amy N. Shore, Bryan W. Luikart, Matthew C. Weston
J Neurosci. 2023 Feb 1; 43(5): 827–845. doi: 10.1523/JNEUROSCI.1354-22.2022
PMCID:
PMC9899090
AbstractArticlePDF–7.5M
19.
Recurrent generalized seizures as the prominent manifestation in a patient with CADASIL: a case report and literature review
Liuhua Pan, Yan Chen, Shanshan Zhao
BMC Neurol. 2022; 22: 375. Published online 2022 Sep 30. doi: 10.1186/s12883-022-02889-7
PMCID:
PMC9526332
AbstractArticlePDF–1.5M
20.
Investigation of MicroRNA-134 as a Target against Seizures and SUDEP in a Mouse Model of Dravet Syndrome
Rogério R. Gerbatin, Joana Augusto, Gareth Morris, Aoife Campbell, Jesper Worm, Elena Langa, Cristina R. Reschke, David C. Henshall
eNeuro. 2022 Sep-Oct; 9(5): ENEURO.0112-22.2022. Prepublished online 2022 Sep 6. Published online 2022 Sep 23. doi: 10.1523/ENEURO.0112-22.2022
PMCID:
PMC9522462
AbstractArticlePDF–1.7M

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