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Items: 1 to 20 of 67

1.
Electroclinical features of insulo‐opercular epilepsy: an SEEG and PET study
Xiu Wang, Wenhan Hu, Aileen McGonigal, Chao Zhang, Lin Sang, Baotian Zhao, Tao Sun, Feng Wang, Jian‐guo Zhang, Xiaoqiu Shao, Kai Zhang
Ann Clin Transl Neurol. 2019 Jul; 6(7): 1165–1177. Published online 2019 Jun 11. doi: 10.1002/acn3.789
PMCID:
PMC6649538
AbstractArticlePDF–3.3M
2.
Neonatal Seizures—Perspective in Low-and Middle-Income Countries
Hemadri Vegda, Vaisakh Krishnan, Gabriel Variane, Vaishnavi Bagayi, Phoebe Ivain, Ronit M. Pressler
Indian J Pediatr. 2022; 89(3): 245–253. Published online 2022 Jan 20. doi: 10.1007/s12098-021-04039-2
PMCID:
PMC8857130
AbstractArticlePDF–1.1M
3.
KCNQ2-Neonatal Epileptic Encephalopathy Complicated by Ventricular Tachycardia: A Case Report
Yuehang Geng, Xinlin Hou
Front Neurol. 2020; 11: 263. Published online 2020 Apr 17. doi: 10.3389/fneur.2020.00263
PMCID:
PMC7180217
AbstractArticlePDF–604K
4.
Activation of Calcium-Activated Chloride Channels Suppresses Inherited Seizure Susceptibility in Genetically Epilepsy-Prone Rats
Miracle Thomas, Mark Simms, Prosper N’Gouemo
Biomedicines. 2022 Feb; 10(2): 449. Published online 2022 Feb 15. doi: 10.3390/biomedicines10020449
PMCID:
PMC8962295
AbstractArticlePDF–1.3M
5.
SCN1A gain-of-function mutation causing an early-onset epileptic encephalopathy
Jérôme Clatot, Shridhar Parthasarathy, Stacey Cohen, Jillian McKee, Shavonne Massey, Ala Somarowthu, Ethan M. Goldberg, Ingo Helbig
Epilepsia. Author manuscript; available in PMC 2024 May 1.
Published in final edited form as: Epilepsia. 2023 May; 64(5): 1318–1330. Published online 2022 Nov 14. doi: 10.1111/epi.17444
PMCID:
PMC10130239
AbstractArticlePDF–1.4M
6.
Status epilepticus as an initial manifestation of hepatic encephalopathy: A case report
Bin Cui, Lin Wei, Li-Ying Sun, Wei Qu, Zhi-Gui Zeng, Ying Liu, Zhi-Jun Zhu
World J Clin Cases. 2020 Dec 26; 8(24): 6480–6486. Published online 2020 Dec 26. doi: 10.12998/wjcc.v8.i24.6480
PMCID:
PMC7760455
AbstractArticlePDF–3.5M
7.
Familial aggregation of focal seizure semiology in the Epilepsy Phenome/Genome Project
Steven Tobochnik, Robyn Fahlstrom, Catherine Shain, Melodie R. Winawer, For the EPGP Investigators
Neurology. 2017 Jul 4; 89(1): 22–28. doi: 10.1212/WNL.0000000000004052
PMCID:
PMC5496514
AbstractArticlePDF–234K
8.
Severe infantile epileptic encephalopathy due to mutations in PLCB1: expansion of the genotypic and phenotypic disease spectrum
Adeline Ngoh, Amy McTague, Ingrid M Wentzensen, Esther Meyer, Carolyn Applegate, Eric H Kossoff, Denise A Batista, Tao Wang, Manju A Kurian
Dev Med Child Neurol. 2014 Nov; 56(11): 1124–1128. Published online 2014 Mar 29. doi: 10.1111/dmcn.12450
PMCID:
PMC4230412
AbstractArticlePDF–522K
9.
Sex Differences in Seizure Types and Symptoms
Chad Carlson, Patricia Dugan, Heidi E Kirsch, Daniel Friedman
Epilepsy Behav. Author manuscript; available in PMC 2015 Dec 1.
Published in final edited form as: Epilepsy Behav. 2014 Dec; 0: 103–108. Published online 2014 Oct 14. doi: 10.1016/j.yebeh.2014.09.051
PMCID:
PMC4267158
AbstractArticlePDF–312K
10.
Loss of Fig4 in both Schwann cells and motor neurons contributes to CMT4J neuropathy
Ilaria Vaccari, Antonietta Carbone, Stefano Carlo Previtali, Yevgeniya A. Mironova, Valeria Alberizzi, Roberta Noseda, Cristina Rivellini, Francesca Bianchi, Ubaldo Del Carro, Maurizio D'Antonio, Guy M. Lenk, Lawrence Wrabetz, Roman J. Giger, Miriam H. Meisler, Alessandra Bolino
Hum Mol Genet. 2015 Jan 15; 24(2): 383–396. Published online 2014 Sep 3. doi: 10.1093/hmg/ddu451
PMCID:
PMC4275070
AbstractArticlePDF–1.8M
11.
The phenotypic spectrum of SCN8A encephalopathy
Jan Larsen, Gemma L. Carvill, Elena Gardella, Gerhard Kluger, Gudrun Schmiedel, Nina Barisic, Christel Depienne, Eva Brilstra, Yuan Mang, Jens Erik Klint Nielsen, Martin Kirkpatrick, David Goudie, Rebecca Goldman, Johanna A. Jähn, Birgit Jepsen, Deepak Gill, Miriam Döcker, Saskia Biskup, Jacinta M. McMahon, Bobby Koeleman, Mandy Harris, Kees Braun, Carolien G.F. de Kovel, Carla Marini, Nicola Specchio, Tania Djémié, Sarah Weckhuysen, Niels Tommerup, Monica Troncoso, Ledia Troncoso, Andrea Bevot, Markus Wolff, Helle Hjalgrim, Renzo Guerrini, Ingrid E. Scheffer, Heather C. Mefford, Rikke S. Møller, ‡On behalf of the EuroEPINOMICS RES Consortium CRP
Neurology. 2015 Feb 3; 84(5): 480–489. doi: 10.1212/WNL.0000000000001211
PMCID:
PMC4336074
AbstractArticlePDF–526K
12.
Phenotypic spectrum of GNAO1 variants: epileptic encephalopathy to involuntary movements with severe developmental delay
Hirotomo Saitsu, Ryoko Fukai, Bruria Ben-Zeev, Yasunari Sakai, Masakazu Mimaki, Nobuhiko Okamoto, Yasuhiro Suzuki, Yukifumi Monden, Hiroshi Saito, Barak Tziperman, Michiko Torio, Satoshi Akamine, Nagahisa Takahashi, Hitoshi Osaka, Takanori Yamagata, Kazuyuki Nakamura, Yoshinori Tsurusaki, Mitsuko Nakashima, Noriko Miyake, Masaaki Shiina, Kazuhiro Ogata, Naomichi Matsumoto
Eur J Hum Genet. 2016 Jan; 24(1): 129–134. Published online 2015 May 13. doi: 10.1038/ejhg.2015.92
PMCID:
PMC4795232
AbstractArticlePDF–1.8M
13.
Chemical–genetic attenuation of focal neocortical seizures
Dennis Kätzel, Elizabeth Nicholson, Stephanie Schorge, Matthew C. Walker, Dimitri M. Kullmann
Nat Commun. 2014 May 27; 5: 3847. Published online 2014 May 27. doi: 10.1038/ncomms4847
PMCID:
PMC4050272
AbstractArticlePDF–1.6M
14.
Photosensitive epilepsy is associated with reduced inhibition of alpha rhythm generating networks
Anna Elisabetta Vaudano, Andrea Ruggieri, Pietro Avanzini, Giuliana Gessaroli, Gaetano Cantalupo, Antonietta Coppola, Sanjay M. Sisodiya, Stefano Meletti
Brain. 2017 Apr; 140(4): 981–997. Published online 2017 Feb 20. doi: 10.1093/brain/awx009
PMCID:
PMC5837657
AbstractArticlePDF–1.0M
15.
Occipital epilepsy versus progressive myoclonic epilepsy in a patient with continuous occipital spikes and photosensitivity in electroencephalogram: A case report
Yudan Lv, Nan Zhang, Chang Liu, Mingchao Shi, Li Sun
Medicine (Baltimore) 2018 Apr; 97(15): e0299. Published online 2018 Apr 13. doi: 10.1097/MD.0000000000010299
PMCID:
PMC5908557
AbstractArticlePDF–1.6M
16.
Focal epilepsy with fear‐related behavior as primary presentation in Boerboel dogs
Quirine E. M. Stassen, Guy C. M. Grinwis, Nieke C. van Rhijn, Martjin Beukers, Nanda M. Verhoeven‐Duif, Peter A. J. Leegwater
J Vet Intern Med. 2019 Mar-Apr; 33(2): 694–700. Published online 2018 Dec 22. doi: 10.1111/jvim.15346
PMCID:
PMC6430876
AbstractArticlePDF–8.9M
17.
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
18.
Ankyrin B and Ankyrin B variants differentially modulate intracellular and surface Cav2.1 levels
Catherine S. W. Choi, Ivana A. Souza, Juan C. Sanchez-Arias, Gerald W. Zamponi, Laura T. Arbour, Leigh Anne Swayne
Mol Brain. 2019; 12: 75. Published online 2019 Sep 2. doi: 10.1186/s13041-019-0494-8
PMCID:
PMC6720858
AbstractArticlePDF–2.0M
19.
Encephalopathy in children with Dravet syndrome is not a pure consequence of epilepsy
Rima Nabbout, Nicole Chemaly, Mathilde Chipaux, Giulia Barcia, Charles Bouis, Celia Dubouch, Dorothee Leunen, Isabelle Jambaqué, Olivier Dulac, Georges Dellatolas, Catherine Chiron
Orphanet J Rare Dis. 2013; 8: 176. Published online 2013 Nov 13. doi: 10.1186/1750-1172-8-176
PMCID:
PMC4225757
AbstractArticlePDF–562K
20.
Reduced Sodium Current in Purkinje Neurons from NaV1.1 Mutant Mice: Implications for Ataxia in Severe Myoclonic Epilepsy in Infancy
Franck Kalume, Frank H. Yu, Ruth E. Westenbroek, Todd Scheuer, William A. Catterall
J Neurosci. 2007 Oct 10; 27(41): 11065–11074. doi: 10.1523/JNEUROSCI.2162-07.2007
PMCID:
PMC6672849
AbstractArticlePDF–941K

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