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Select item 19149141.

Linkage analysis of juvenile myoclonic epilepsy and microsatellite loci spanning 61 cM of human chromosome 6p in 19 nuclear pedigrees provides no evidence for a susceptibility locus in this region.

F. V. Elmslie, M. P. Williamson, M. Rees, M. Kerr, M. J. Kjeldsen, K. A. Pang, A. Sundqvist, M. L. Friis, A. Richens, D. Chadwick, W. P. Whitehouse, R. M. Gardiner

Am J Hum Genet. 1996 Sep; 59(3): 653–663.

PMCID:: PMC1914914

Summary Page Browse PDF–1.4M

Select item 16824182.

Linkage analysis of idiopathic generalized epilepsy (IGE) and marker loci on chromosome 6p in families of patients with juvenile myoclonic epilepsy: no evidence for an epilepsy locus in the HLA region.

W P Whitehouse, M Rees, D Curtis, A Sundqvist, K Parker, E Chung, D Baralle, R M Gardiner

Am J Hum Genet. 1993 Sep; 53(3): 652–662.

PMCID:: PMC1682418

Summary Page Browse PDF–1.2M

Select item 16307653.

Complex inheritance and parent-of-origin effect in juvenile myoclonic epilepsy

Deb K. Pal, Martina Durner, Irene Klotz, Elisa Dicker, Shlomo Shinnar, Stanley Resor, Jeffrey Cohen, Cynthia Harden, Solomon L. Moshé, Karen Ballaban-Gill, Edward B. Bromfield, David A. Greenberg

Brain Dev. Author manuscript; available in PMC 2006 Nov 2.

Published in final edited form as: Brain Dev. 2006 Mar; 28(2): 92–98. Published online 2006 Jan 18. doi: 10.1016/j.braindev.2005.05.009

PMCID:: PMC1630765

Article PDF–303K

Select item 11803664.

BRD2 (RING3) Is a Probable Major Susceptibility Gene for Common Juvenile Myoclonic Epilepsy

Deb K. Pal, Oleg V. Evgrafov, Paula Tabares, Fengli Zhang, Martina Durner, David A. Greenberg

Am J Hum Genet. 2003 Aug; 73(2): 261–270. Published online 2003 Jun 25. doi: 10.1086/377006

PMCID:: PMC1180366

Article PDF–262K

Select item 245635.

Human γ-aminobutyric acid type B receptors are differentially expressed and regulate inwardly rectifying K⁺ channels

Klemens Kaupmann, Valerie Schuler, Johannes Mosbacher, Serge Bischoff, Helmut Bittiger, Jakob Heid, Wolfgang Froestl, Sabine Leonhard, Torsten Pfaff, Andreas Karschin, Bernhard Bettler

Proc Natl Acad Sci U S A. 1998 Dec 8; 95(25): 14991–14996. doi: 10.1073/pnas.95.25.14991

PMCID:: PMC24563

Article PDF–388K

Select item 109526126.

Cognitive phenotype of juvenile absence epilepsy: An investigation of patients and unaffected siblings

Lorenzo Caciagli, Corey Ratcliffe, Fenglai Xiao, Louis A. van Graan, Karin Trimmel, Christian Vollmar, Maria Centeno, John S. Duncan, Pamela J. Thompson, Sallie Baxendale, Matthias J. Koepp, Britta Wandschneider

Epilepsia. 2023 Oct; 64(10): 2792–2805. Published online 2023 Aug 10. doi: 10.1111/epi.17719

PMCID:: PMC10952612

Article PDF–1.7M

Select item 105095277.

Multi-spectral diffusion MRI mega-analysis in genetic generalized epilepsy: Relation to outcomes

Barbara A.K. Kreilkamp, Christina Stier, Erik H. Rauf, Pascal Martin, Silke Ethofer, Holger Lerche, Raviteja Kotikalapudi, Justus Marquetand, Peter Dechent, Niels K. Focke

Neuroimage Clin. 2023; 39: 103474. Published online 2023 Jul 8. doi: 10.1016/j.nicl.2023.103474

PMCID:: PMC10509527

Article PDF–3.4M

Select item 102667928.

Viral vector–mediated expression of Na_V1.1, after seizure onset, reduces epilepsy in mice with Dravet syndrome

Saja Fadila, Bertrand Beucher, Iria González Dopeso-Reyes, Anat Mavashov, Marina Brusel, Karen Anderson, Caroline Ismeurt, Ethan M. Goldberg, Ana Ricobaraza, Ruben Hernandez-Alcoceba, Eric J. Kremer, Moran Rubinstein

J Clin Invest. 2023 Jun 15; 133(12): e159316. Published online 2023 Jun 15. doi: 10.1172/JCI159316

PMCID:: PMC10266792

Article PDF–32M

Select item 100925869.

Drug resistance in idiopathic generalized epilepsies: Evidence and concepts

Joanna Gesche, Christoph P. Beier

Epilepsia. 2022 Dec; 63(12): 3007–3019. Published online 2022 Oct 14. doi: 10.1111/epi.17410

PMCID:: PMC10092586

Article PDF–748K

Select item 952246210.

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

Article PDF–1.7M

Select item 915925111.

Recurrence rates and risk factors for seizure recurrence following antiseizure medication withdrawal in adolescent patients with genetic generalized epilepsy

Takao Komatsubara, Yu Kobayashi, Akiko Hiraiwa, Shinichi Magara, Moemi Hojo, Takeshi Ono, Kenichi Okazaki, Masafumi Fukuda, Jun Tohyama

Epilepsia Open. 2022 Jun; 7(2): 332–343. Published online 2022 Apr 28. doi: 10.1002/epi4.12603

PMCID:: PMC9159251

Article PDF–1.1M

Select item 906691712.

Clinical and genetic characterization of a cohort of 97 CLN6 patients tested at a single center

Corina-Marcela Rus, Thomas Weissensteiner, Catarina Pereira, Iuliana Susnea, Bright D. Danquah, Galina Morales Torres, Maria Eugenia Rocha, Claudia Cozma, Deepa Saravanakumar, Sumanth Mannepalli, Krishna K. Kandaswamy, Sebastiano Di Bucchianico, Ralf Zimmermann, Arndt Rolfs, Peter Bauer, Christian Beetz

Orphanet J Rare Dis. 2022; 17: 179. Published online 2022 May 3. doi: 10.1186/s13023-022-02288-8

PMCID:: PMC9066917

Article PDF–1.2M

Select item 871027013.

瞬时受体电位 M2 型离子通道在神经系统疾病中的作用研究进展

Yingchao YING, Peifang JIANG

Zhejiang Da Xue Xue Bao Yi Xue Ban. 2021 Apr; 50(2): 267–276. Chinese. doi: 10.3724/zdxbyxb-2021-0110

PMCID:: PMC8710270

Article PDF–3.4M

Select item 808161314.

Mutational Analysis of Myoclonin1 Gene in Pakistani Juvenile Myoclonic Epilepsy Patients

Tayyaba Saleem, Arooj Mustafa, Nadeem Sheikh, Maryam Mukhtar, Mavra Irfan, Saira Kainat Suqaina

Biomed Res Int. 2021; 2021: 7509825. Published online 2021 Apr 20. doi: 10.1155/2021/7509825

PMCID:: PMC8081613

Article PDF–1.0M

Select item 782185715.

Impaired θ-γ Coupling Indicates Inhibitory Dysfunction and Seizure Risk in a Dravet Syndrome Mouse Model

Nico A. Jansen, Carlos Perez, Maarten Schenke, Anouk W. van Beurden, Anisa Dehghani, Rob A. Voskuyl, Roland D. Thijs, Ghanim Ullah, Arn M.J.M. van den Maagdenberg, Else A. Tolner

J Neurosci. 2021 Jan 20; 41(3): 524–537. doi: 10.1523/JNEUROSCI.2132-20.2020

PMCID:: PMC7821857

Article PDF–4.6M

Select item 774479516.

Epilepsy protein Efhc1/myoclonin1 is expressed in cells with motile cilia but not in neurons or mitotic apparatuses in brain

Toshimitsu Suzuki, Ikuyo Inoue, Kazuhiro Yamakawa

Sci Rep. 2020; 10: 22076. Published online 2020 Dec 16. doi: 10.1038/s41598-020-79202-4

PMCID:: PMC7744795

Article PDF–1.8M

Select item 758965417.

Genetic Landscape of Common Epilepsies: Advancing towards Precision in Treatment

Sarita Thakran, Debleena Guin, Pooja Singh, Priyanka Singh, Samiksha Kukal, Chitra Rawat, Saroj Yadav, Suman S. Kushwaha, Achal K. Srivastava, Yasha Hasija, Luciano Saso, Srinivasan Ramachandran, Ritushree Kukreti

Int J Mol Sci. 2020 Oct; 21(20): 7784. Published online 2020 Oct 21. doi: 10.3390/ijms21207784

PMCID:: PMC7589654

Article PDF–2.0M

Select item 728886318.

The best evidence for progressive myoclonic epilepsy: A pathway to precision therapy

Alessandro Orsini, Angelo Valetto, Veronica Bertini, Mariagrazia Esposito, Niccolò Carli, Berge A. Minassian, Alice Bonuccelli, Diego Peroni, Roberto Michelucci, Pasquale Striano

Seizure. Author manuscript; available in PMC 2020 Jun 11.

Published in final edited form as: Seizure. 2019 Oct; 71: 247–257. Published online 2019 Aug 23. doi: 10.1016/j.seizure.2019.08.012

PMCID:: PMC7288863

Article PDF–376K

Select item 726175519.

A familial t(4;8) translocation segregates with epilepsy and migraine with aura

Milena Crippa, Paola Malatesta, Maria Teresa Bonati, Francesco Trapasso, Francesco Fortunato, Grazia Annesi, Lidia Larizza, Angelo Labate, Palma Finelli, Nicola Perrotti, Antonio Gambardella

Ann Clin Transl Neurol. 2020 May; 7(5): 855–859. Published online 2020 Apr 21. doi: 10.1002/acn3.51040