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Items: 1 to 20 of 86

1.
Characterization of Postanoxic Tonic Eyelid Opening: A Poorly Recognized Prognostic Sign
Faisal Alsallom, Hussam Shaker, Christopher Newey, Stephen Hantus, Vineet Punia
Neurol Clin Pract. 2021 Aug; 11(4): e422–e429. doi: 10.1212/CPJ.0000000000000990
PMCID:
PMC8382422
AbstractArticlePDF–737K
2.
Candidate Genes for Eyelid Myoclonia with Absences, Review of the Literature
Sonia Mayo, Irene Gómez-Manjón, Fco. Javier Fernández-Martínez, Ana Camacho, Francisco Martínez, Julián Benito-León
Int J Mol Sci. 2021 Jun; 22(11): 5609. Published online 2021 May 25. doi: 10.3390/ijms22115609
PMCID:
PMC8199219
AbstractArticlePDF–1.4M
3.
Case Report: A Case of Eyelid Myoclonic Status With Tonic–Clonic Seizure and Literature Review
Yujun Yuan, Fenghua Yang, Liang Huo, Yuying Fan, Xueyan Liu, Qiong Wu, Hua Wang
Front Pediatr. 2021; 9: 671732. Published online 2021 Apr 22. doi: 10.3389/fped.2021.671732
PMCID:
PMC8100049
AbstractArticlePDF–3.6M
4.
Ictal epileptic headache revealing non convulsive status epilepticus in a case of eyelid myoclonia with absences
Martina Fanella, Alessandra Morano, Jinane Fattouch, Mariarita Albini, Sara Casciato, Mario Manfredi, Anna Teresa Giallonardo, Carlo Di Bonaventura
J Headache Pain. 2015; 16: 105. Published online 2015 Dec 7. doi: 10.1186/s10194-015-0587-4
PMCID:
PMC4671982
AbstractArticlePDF–1.8M
5.
Eyelid myoclonia with typical absences: an epilepsy syndrome.
R E Appleton, C P Panayiotopoulos, B A Acomb, M Beirne
J Neurol Neurosurg Psychiatry. 1993 Dec; 56(12): 1312–1316. doi: 10.1136/jnnp.56.12.1312
PMCID:
PMC1015381
SummaryPage BrowsePDF–906K
6.
Epilepsy with Eyelid Myoclonia Complicated by Polycystic Ovary Syndrome: Valproate Withdrawal, Vagus Nerve Stimulation, and Seizure Reduction
Kyoko TATEBAYASHI, Ichiro TAKUMI, Takashi MATSUMORI, Kimiyuki KAWAGUCHI, Hidetoshi MURATA
NMC Case Rep J. 2023; 10: 321–325. Published online 2023 Nov 11. doi: 10.2176/jns-nmc.2023-0083
PMCID:
PMC10701476
AbstractArticlePDF–162K
7.
Focal frontal epileptiform discharges in a patient with eyelid myoclonia and absence seizures
Satoru Takahashi, Shiho Yamamoto, Ryosuke Tanaka, Akie Okayama, Akiko Araki, Hiroshi Azuma
Epilepsy Behav Case Rep. 2015; 4: 35–37. Published online 2015 Jun 25. doi: 10.1016/j.ebcr.2015.06.006
PMCID:
PMC4491640
AbstractArticlePDF–1.6M
8.
RETRACTED ARTICLE: Clinical characterization of familial 1p36.3 microduplication
Junping Jiao, Yuping Wang, Yue Hou, Chao Gao, Huimin Shi, Shujuan Tian
Neurogenetics. 2023; 24(3): 201–208. Published online 2023 Jun 8. doi: 10.1007/s10048-023-00722-y
Retraction in:
Neurogenetics. 2024; 25(1): 49.
PMCID:
PMC10319691
AbstractArticle
9.
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
AbstractArticlePDF–1.5M
10.
Epilepsia Brief Communication: Inherited RORB pathogenic variants: overlap of photosensitive genetic generalized and occipital lobe epilepsy
Lynette G Sadleir, Guillem de Valles-Ibáñez, Chontelle King, Matthew Coleman, Stuart Mossman, Sarah Paterson, John Nguyen, Samuel F Berkovic, Saul Mullen, Melanie Bahlo, Michael S. Hildebrand, Heather C Mefford, Ingrid E Scheffer
Epilepsia. Author manuscript; available in PMC 2021 Apr 1.
Published in final edited form as: Epilepsia. 2020 Apr; 61(4): e23–e29. Published online 2020 Mar 12. doi: 10.1111/epi.16475
PMCID:
PMC7363501
AbstractArticlePDF–518K
11.
SYNGAP1 encephalopathy: A distinctive generalized developmental and epileptic encephalopathy
Danique R.M. Vlaskamp, Benjamin J. Shaw, Rosemary Burgess, Davide Mei, Martino Montomoli, Han Xie, Candace T. Myers, Mark F. Bennett, Wenshu XiangWei, Danielle Williams, Saskia M. Maas, Alice S. Brooks, Grazia M.S. Mancini, Ingrid M.B.H. van de Laar, Johanna M. van Hagen, Tyson L. Ware, Richard I. Webster, Stephen Malone, Samuel F. Berkovic, Renate M. Kalnins, Federico Sicca, G. Christoph Korenke, Conny M.A. van Ravenswaaij-Arts, Michael S. Hildebrand, Heather C. Mefford, Yuwu Jiang, Renzo Guerrini, Ingrid E. Scheffer
Neurology. 2019 Jan 8; 92(2): e96–e107. doi: 10.1212/WNL.0000000000006729
Correction in:
Neurology. 2019 Nov 12; 93(20): 908.
PMCID:
PMC6340340
AbstractArticlePDF–1.3M
12.
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
AbstractArticlePDF–3.7M
13.
Loss of function of the retinoid-related nuclear receptor (RORB) gene and epilepsy
Gabrielle Rudolf, Gaetan Lesca, Mana M Mehrjouy, Audrey Labalme, Manal Salmi, Iben Bache, Nadine Bruneau, Manuela Pendziwiat, Joel Fluss, Julitta de Bellescize, Julia Scholly, Rikke S Møller, Dana Craiu, Niels Tommerup, Maria Paola Valenti-Hirsch, Caroline Schluth-Bolard, Frédérique Sloan-Béna, Katherine L Helbig, Sarah Weckhuysen, Patrick Edery, Safia Coulbaut, Mohamed Abbas, Ingrid E Scheffer, Sha Tang, Candace T Myers, Hannah Stamberger, Gemma L Carvill, Deepali N Shinde, Heather C Mefford, Elena Neagu, Robert Huether, Hsiao-Mei Lu, Alice Dica, Julie S Cohen, Catrinel Iliescu, Cristina Pomeran, James Rubenstein, Ingo Helbig, Damien Sanlaville, Edouard Hirsch, Pierre Szepetowski
Eur J Hum Genet. 2016 Dec; 24(12): 1761–1770. Published online 2016 Jun 29. doi: 10.1038/ejhg.2016.80
PMCID:
PMC5117930
AbstractArticlePDF–2.1M
14.
CHD2 variants are a risk factor for photosensitivity in epilepsy
Elizabeth C. Galizia, Candace T. Myers, Costin Leu, Carolien G. F. de Kovel, Tatiana Afrikanova, Maria Lorena Cordero-Maldonado, Teresa G. Martins, Maxime Jacmin, Suzanne Drury, V. Krishna Chinthapalli, Hiltrud Muhle, Manuela Pendziwiat, Thomas Sander, Ann-Kathrin Ruppert, Rikke S. Møller, Holger Thiele, Roland Krause, Julian Schubert, Anna-Elina Lehesjoki, Peter Nürnberg, Holger Lerche, for the EuroEPINOMICS CoGIE Consortium, Aarno Palotie, Antonietta Coppola, Salvatore Striano, Luigi Del Gaudio, Christopher Boustred, Amy L. Schneider, Nicholas Lench, Bosanka Jocic-Jakubi, Athanasios Covanis, Giuseppe Capovilla, Pierangelo Veggiotti, Marta Piccioli, Pasquale Parisi, Laura Cantonetti, Lynette G. Sadleir, Saul A. Mullen, Samuel F. Berkovic, Ulrich Stephani, Ingo Helbig, Alexander D. Crawford, Camila V. Esguerra, Dorothee G. A. Kasteleijn-Nolst Trenité, Bobby P. C. Koeleman, Heather C. Mefford, Ingrid E. Scheffer, Sanjay M. Sisodiya
Brain. 2015 May; 138(5): 1198–1207. Published online 2015 Mar 16. doi: 10.1093/brain/awv052
PMCID:
PMC4407192
AbstractArticlePDF–464K
15.
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
AbstractArticlePDF–374K
16.
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
AbstractArticlePDF–603K
17.
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
AbstractArticlePDF–752K
18.
Deep Brain Stimulation for an Unusual Presentation of Myoclonus Dystonia Associated with Russell-Silver Syndrome
Danielle S. Shpiner, Dr. Taylor K. Peabody, Corneliu C. Luca, Jonathan Jagid, Henry Moore
Tremor Other Hyperkinet Mov (N Y) 2023; 13: 40. Published online 2023 Oct 30. doi: 10.5334/tohm.782
PMCID:
PMC10624206
AbstractArticlePDF–981K
19.
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
AbstractArticlePDF–4.4M
20.
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
AbstractArticlePDF–1.5M

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