PMC Links for Protein (Select 260166633) - PMC

Select item 67069171.

Clinical exome sequencing identifies two novel mutations of the SCN1A and SCN2A genes in Moroccan patients with epilepsy: a case series

Maryem Sahli, Abdelali Zrhidri, Siham Chafai Elaloui, Wiam Smaili, Jaber Lyahyai, Fatima Zohra Oudghiri, Abdelaziz Sefiani

J Med Case Rep. 2019; 13: 266. Published online 2019 Aug 23. doi: 10.1186/s13256-019-2203-8

PMCID:: PMC6706917

Abstract Article PDF–521K

Select item 66722412.

Na_v1.1 Localizes to Axons of Parvalbumin-Positive Inhibitory Interneurons: A Circuit Basis for Epileptic Seizures in Mice Carrying an Scn1a Gene Mutation

Ikuo Ogiwara, Hiroyuki Miyamoto, Noriyuki Morita, Nafiseh Atapour, Emi Mazaki, Ikuyo Inoue, Tamaki Takeuchi, Shigeyoshi Itohara, Yuchio Yanagawa, Kunihiko Obata, Teiichi Furuichi, Takao K. Hensch, Kazuhiro Yamakawa

J Neurosci. 2007 May 30; 27(22): 5903–5914. doi: 10.1523/JNEUROSCI.5270-06.2007

PMCID:: PMC6672241

Abstract Article PDF–1.0M

Select item 62967363.

Familial episodic limb pain in kindreds with novel Nav1.9 mutations

Risako Kabata, Hiroko Okuda, Atsuko Noguchi, Daiki Kondo, Michimasa Fujiwara, Kenichiro Hata, Yoshifumi Kato, Ken Ishikawa, Manabu Tanaka, Yuji Sekine, Nozomi Hishikawa, Tomoyuki Mizukami, Junichi Ito, Manami Akasaka, Ken Sakurai, Takeshi Yoshida, Hironori Minoura, Takashi Hayashi, Kohei Inoshita, Misayo Matsuyama, Noriko Kinjo, Yang Cao, Sumiko Inoue, Hatasu Kobayashi, Kouji H. Harada, Shohab Youssefian, Tsutomu Takahashi, Akio Koizumi

PLoS One. 2018; 13(12): e0208516. Published online 2018 Dec 17. doi: 10.1371/journal.pone.0208516

PMCID:: PMC6296736

Abstract Article PDF–1.6M

Select item 52595674.

CaMKII Phosphorylation of Na_V1.5: Novel in Vitro Sites Identified by Mass Spectrometry and Reduced S516 Phosphorylation in Human Heart Failure

Anthony W. Herren, Darren M. Weber, Robert R. Rigor, Kenneth B. Margulies, Brett S. Phinney, Donald M. Bers

J Proteome Res. Author manuscript; available in PMC 2017 Jan 24.

Published in final edited form as: J Proteome Res. 2015 May 1; 14(5): 2298–2311. Published online 2015 Apr 13. doi: 10.1021/acs.jproteome.5b00107

PMCID:: PMC5259567

Abstract Article PDF–1.6M

Select item 49478645.

Pitfalls in genetic testing: the story of missed SCN1A mutations

Tania Djémié, Sarah Weckhuysen, Sarah von Spiczak, Gemma L. Carvill, Johanna Jaehn, Anna‐Kaisa Anttonen, Eva Brilstra, Hande S. Caglayan, Carolien G. de Kovel, Christel Depienne, Eija Gaily, Elena Gennaro, Beatriz G. Giraldez, Padhraig Gormley, Rosa Guerrero‐López, Renzo Guerrini, Eija Hämäläinen, Corinna Hartmann, Laura Hernandez‐Hernandez, Helle Hjalgrim, Bobby P. C. Koeleman, Eric Leguern, Anna‐Elina Lehesjoki, Johannes R. Lemke, Costin Leu, Carla Marini, Jacinta M. McMahon, Davide Mei, Rikke S. Møller, Hiltrud Muhle, Candace T. Myers, Caroline Nava, Jose M. Serratosa, Sanjay M. Sisodiya, Ulrich Stephani, Pasquale Striano, Marjan J. A. van Kempen, Nienke E. Verbeek, Sunay Usluer, Federico Zara, Aarno Palotie, Heather C. Mefford, Ingrid E. Scheffer, Peter De Jonghe, Ingo Helbig, Arvid Suls, EuroEPINOMICS‐RES Dravet working group

Mol Genet Genomic Med. 2016 Jul; 4(4): 457–464. Published online 2016 Apr 14. doi: 10.1002/mgg3.217

PMCID:: PMC4947864

Abstract Article PDF–98K

Select item 48454746.

Pathogenic copy number variants and SCN1A mutations in patients with intellectual disability and childhood-onset epilepsy

Andrew E. Fry, Elliott Rees, Rose Thompson, Kiran Mantripragada, Penny Blake, Glyn Jones, Sian Morgan, Sian Jose, Hood Mugalaasi, Hayley Archer, Emma McCann, Angus Clarke, Clare Taylor, Sally Davies, Frances Gibbon, Johann Te Water Naude, Louise Hartley, Gareth Thomas, Catharine White, Jaya Natarajan, Rhys H. Thomas, Cheney Drew, Seo-Kyung Chung, Mark I. Rees, Peter Holmans, Michael J. Owen, George Kirov, Daniela T. Pilz, Michael P. Kerr

BMC Med Genet. 2016; 17: 34. Published online 2016 Apr 26. doi: 10.1186/s12881-016-0294-2

PMCID:: PMC4845474

Abstract Article PDF–469K

Select item 48105727.

Parental mosaicism in another case of Dravet syndrome caused by a novel SCN1A deletion: a case report

Rajech Sharkia, Holger Hengel, Ludger Schöls, Muhammad Athamna, Peter Bauer, Muhammad Mahajnah

J Med Case Rep. 2016; 10: 67. Published online 2016 Mar 29. doi: 10.1186/s13256-016-0854-2

PMCID:: PMC4810572

Abstract Article PDF–848K

Select item 47986428.

Evaluation of Presumably Disease Causing SCN1A Variants in a Cohort of Common Epilepsy Syndromes

Dennis Lal, Eva M. Reinthaler, Borislav Dejanovic, Patrick May, Holger Thiele, Anna-Elina Lehesjoki, Günter Schwarz, Erik Riesch, M. Arfan Ikram, Cornelia M. van Duijn, Andre G. Uitterlinden, Albert Hofman, Hannelore Steinböck, Ursula Gruber-Sedlmayr, Birgit Neophytou, Federico Zara, Andreas Hahn, Genetic Commission of the Italian League against Epilepsy, EuroEPINOMICS CoGIE Consortium, Padhraig Gormley, Felicitas Becker, Yvonne G. Weber, Maria Roberta Cilio, Wolfram S. Kunz, Roland Krause, Fritz Zimprich, Johannes R. Lemke, Peter Nürnberg, Thomas Sander, Holger Lerche, Bernd A. Neubauer

PLoS One. 2016; 11(3): e0150426. Published online 2016 Mar 18. doi: 10.1371/journal.pone.0150426

PMCID:: PMC4798642

Abstract Article PDF–265K

Select item 38684649.

Functional Characterization of a Novel Frameshift Mutation in the C-terminus of the Nav1.5 Channel Underlying a Brugada Syndrome with Variable Expression in a Spanish Family

Pablo Dolz-Gaitón, Mercedes Núñez, Lucía Núñez, Adriana Barana, Irene Amorós, Marcos Matamoros, Marta Pérez-Hernández, Marta González de la Fuente, Miguel Álvarez-López, Rosa Macías-Ruiz, Luis Tercedor-Sánchez, Juan Jiménez-Jáimez, Eva Delpón, Ricardo Caballero, Juan Tamargo

PLoS One. 2013; 8(11): e81493. Published online 2013 Nov 25. doi: 10.1371/journal.pone.0081493

PMCID:: PMC3868464

Abstract Article PDF–2.1M

Select item 370415710.

Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1

Gemma L. Carvill, Sinéad B. Heavin, Simone C. Yendle, Jacinta M. McMahon, Brian J. O’Roak, Joseph Cook, Adiba Khan, Michael O Dorschner, Molly Weaver, Sophie Calvert, Stephen Malone, Geoffrey Wallace, Thorsten Stanley, Ann M. E. Bye, Andrew Bleasel, Katherine B. Howell, Sara Kivity, Mark T. Mackay, Victoria Rodriguez-Casero, Richard Webster, Amos Korczyn, Zaid Afawi, Nathanel Zelnick, Tally Lerman-Sagie, Dorit Lev, Rikke S. Møller, Deepak Gill, Danielle M. Andrade, Jeremy L. Freeman, Lynette G. Sadleir, Jay Shendure, Samuel F. Berkovic, Ingrid E. Scheffer, Heather C. Mefford

Nat Genet. Author manuscript; available in PMC 2014 Jan 1.

Published in final edited form as: Nat Genet. 2013 Jul; 45(7): 825–830. Published online 2013 May 26. doi: 10.1038/ng.2646

PMCID:: PMC3704157

Article PDF–667K

Select item 365589311.

A human Dravet syndrome model from patient induced pluripotent stem cells

Norimichi Higurashi, Taku Uchida, Christoph Lossin, Yoshio Misumi, Yohei Okada, Wado Akamatsu, Yoichi Imaizumi, Bo Zhang, Kazuki Nabeshima, Masayuki X Mori, Shutaro Katsurabayashi, Yukiyoshi Shirasaka, Hideyuki Okano, Shinichi Hirose

Mol Brain. 2013; 6: 19. Published online 2013 May 2. doi: 10.1186/1756-6606-6-19

PMCID:: PMC3655893

Abstract Article PDF–1.9M

Select item 341345812.

An AnkyrinG-Binding Motif Is Necessary and Sufficient for Targeting Na_v1.6 Sodium Channels to Axon Initial Segments and Nodes of Ranvier

Andreas Gasser, Tammy Szu-Yu Ho, Xiaoyang Cheng, Kae-Jiun Chang, Stephen G. Waxman, Matthew N. Rasband, Sulayman D. Dib-Hajj

J Neurosci. 2012 May 23; 32(21): 7232–7243. doi: 10.1523/JNEUROSCI.5434-11.2012

PMCID:: PMC3413458

Abstract Article PDF–3.3M

Select item 340501713.

Identification of SCN1A and PCDH19 Mutations in Chinese Children with Dravet Syndrome

Anna Ka-Yee Kwong, Cheuk-Wing Fung, Siu-Yuen Chan, Virginia Chun-Nei Wong

PLoS One. 2012; 7(7): e41802. Published online 2012 Jul 25. doi: 10.1371/journal.pone.0041802

PMCID:: PMC3405017

Abstract Article PDF–504K

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