PMC Links for Books (Select 4722630) - PMC

Select item 59153341.

Mutations in KCNT1 cause a spectrum of focal epilepsies

Rikke S. Møller, Sarah E. Heron, Line H. G. Larsen, Chiao Xin Lim, Michael G. Ricos, Marta A. Bayly, Marjan J. A. van Kempen, Sylvia Klinkenberg, Ian Andrews, Kent Kelley, Gabriel M. Ronen, David Callen, Jacinta M. McMahon, Simone C. Yendle, Gemma L. Carvill, Heather C. Mefford, Rima Nabbout, Annapurna Poduri, Pasquale Striano, Maria G. Baglietto, Federico Zara, Nicholas J. Smith, Clair Pridmore, Elena Gardella, Marina Nikanorova, Hans Atli Dahl, Pia Gellert, Ingrid E. Scheffer, Boudewijn Gunning, Bente Kragh-Olsen, Leanne M. Dibbens

Epilepsia. Author manuscript; available in PMC 2018 Apr 24.

Published in final edited form as: Epilepsia. 2015 Sep; 56(9): e114–e120. Published online 2015 Jun 30. doi: 10.1111/epi.13071

PMCID:: PMC5915334

Article PDF–182K

Select item 57546472.

Clinical and molecular characterization of KCNT1-related severe early-onset epilepsy

Amy McTague, Umesh Nair, Sony Malhotra, Esther Meyer, Natalie Trump, Elena V. Gazina, Apostolos Papandreou, Adeline Ngoh, Sally Ackermann, Gautam Ambegaonkar, Richard Appleton, Archana Desurkar, Christin Eltze, Rachel Kneen, Ajith V. Kumar, Karine Lascelles, Tara Montgomery, Venkateswaran Ramesh, Rajib Samanta, Richard H. Scott, Jeen Tan, William Whitehouse, Annapurna Poduri, Ingrid E. Scheffer, W.K. “Kling” Chong, J. Helen Cross, Maya Topf, Steven Petrou, Manju A. Kurian

Neurology. 2018 Jan 2; 90(1): e55–e66. doi: 10.1212/WNL.0000000000004762

PMCID:: PMC5754647

Article PDF–1.4M

Select item 49518123.

Impaired neuronal KCC2 function by biallelic SLC12A5 mutations in migrating focal seizures and severe developmental delay

Hirotomo Saitsu, Miho Watanabe, Tenpei Akita, Chihiro Ohba, Kenji Sugai, Winnie Peitee Ong, Hideaki Shiraishi, Shota Yuasa, Hiroshi Matsumoto, Khoo Teik Beng, Shinji Saitoh, Satoko Miyatake, Mitsuko Nakashima, Noriko Miyake, Mitsuhiro Kato, Atsuo Fukuda, Naomichi Matsumoto

Sci Rep. 2016; 6: 30072. Published online 2016 Jul 20. doi: 10.1038/srep30072

PMCID:: PMC4951812

Article PDF–1.9M

Select item 45696944.

Mutations in SLC12A5 in epilepsy of infancy with migrating focal seizures

Tommy Stödberg, Amy McTague, Arnaud J. Ruiz, Hiromi Hirata, Juan Zhen, Philip Long, Irene Farabella, Esther Meyer, Atsuo Kawahara, Grace Vassallo, Stavros M. Stivaros, Magnus K. Bjursell, Henrik Stranneheim, Stephanie Tigerschiöld, Bengt Persson, Iftikhar Bangash, Krishna Das, Deborah Hughes, Nicole Lesko, Joakim Lundeberg, Rod C. Scott, Annapurna Poduri, Ingrid E. Scheffer, Holly Smith, Paul Gissen, Stephanie Schorge, Maarten E. A. Reith, Maya Topf, Dimitri M. Kullmann, Robert J. Harvey, Anna Wedell, Manju A. Kurian

Nat Commun. 2015; 6: 8038. Published online 2015 Sep 3. doi: 10.1038/ncomms9038

PMCID:: PMC4569694

Article PDF–2.4M

Select item 45674645.

SCN2A encephalopathy: A major cause of epilepsy of infancy with migrating focal seizures

Katherine B. Howell, Jacinta M. McMahon, Gemma L. Carvill, Dimira Tambunan, Mark T. Mackay, Victoria Rodriguez-Casero, Richard Webster, Damian Clark, Jeremy L. Freeman, Sophie Calvert, Heather E. Olson, Simone Mandelstam, Annapurna Poduri, Heather C. Mefford, A. Simon Harvey, Ingrid E. Scheffer

Neurology. 2015 Sep 15; 85(11): 958–966. doi: 10.1212/WNL.0000000000001926

PMCID:: PMC4567464

Article PDF–832K

Select item 45447536.

Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

Sue Richards, Nazneen Aziz, Sherri Bale, David Bick, Soma Das, Julie Gastier-Foster, Wayne W. Grody, Madhuri Hegde, Elaine Lyon, Elaine Spector, Karl Voelkerding, Heidi L. Rehm

Genet Med. Author manuscript; available in PMC 2015 Nov 1.

Published in final edited form as: Genet Med. 2015 May; 17(5): 405–424. Published online 2015 Mar 5. doi: 10.1038/gim.2015.30

PMCID:: PMC4544753

Article PDF–960K

Select item 44091137.

Cortical GABAergic excitation contributes to epileptic activities around human glioma

Johan Pallud, Michel Le Van Quyen, Franck Bielle, Christophe Pellegrino, Pascale Varlet, Noemie Cresto, Michel Baulac, Charles Duyckaerts, Nazim Kourdougli, Geneviève Chazal, Bertrand Devaux, Claudio Rivera, Richard Miles, Laurent Capelle, Gilles Huberfeld

Sci Transl Med. Author manuscript; available in PMC 2015 Apr 24.

Published in final edited form as: Sci Transl Med. 2014 Jul 9; 6(244): 244ra89. doi: 10.1126/scitranslmed.3008065

PMCID:: PMC4409113

Article PDF–2.6M

Select item 43360748.

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

Article PDF–526K

Select item 41978839.

A variant of KCC2 from patients with febrile seizures impairs neuronal Cl⁻ extrusion and dendritic spine formation

Martin Puskarjov, Patricia Seja, Sarah E Heron, Tristiana C Williams, Faraz Ahmad, Xenia Iona, Karen L Oliver, Bronwyn E Grinton, Laszlo Vutskits, Ingrid E Scheffer, Steven Petrou, Peter Blaesse, Leanne M Dibbens, Samuel F Berkovic, Kai Kaila

EMBO Rep. 2014 Jun; 15(6): 723–729. Published online 2014 Mar 25. doi: 10.1002/embr.201438749

PMCID:: PMC4197883

Article PDF–1.8M

Select item 419698010.

Genetically encoded impairment of neuronal KCC2 cotransporter function in human idiopathic generalized epilepsy

Kristopher T Kahle, Nancy D Merner, Perrine Friedel, Liliya Silayeva, Bo Liang, Arjun Khanna, Yuze Shang, Pamela Lachance-Touchette, Cynthia Bourassa, Annie Levert, Patrick A Dion, Brian Walcott, Dan Spiegelman, Alexandre Dionne-Laporte, Alan Hodgkinson, Philip Awadalla, Hamid Nikbakht, Jacek Majewski, Patrick Cossette, Tarek Z Deeb, Stephen J Moss, Igor Medina, Guy A Rouleau

EMBO Rep. 2014 Jul; 15(7): 766–774. Published online 2014 Jun 13. doi: 10.15252/embr.201438840

PMCID:: PMC4196980

Article PDF–1.0M

Select item 403132911.

SLC25A22 is a Novel Gene for Migrating Partial Seizures in Infancy

Annapurna Poduri, Erin L. Heinzen, Vida Chitsazzadeh, Francesco Massimo Lasorsa, P. Christina Elhosary, Christopher M. LaCoursiere, Emilie Martin, Christopher J. Yuskaitis, Robert Sean Hill, Kutay Deniz Atabay, Brenda Barry, Jennifer N. Partlow, Fahad A. Bashiri, Radwan M. Zeidan, Salah A. Elmalik, Mohammad M.U. Kabiraj, Sanjeev Kothare, Tommy Stödberg, Ingrid E. Scheffer, A. James Barkovich, Ferdinando Palmieri, Mustafa A. Salih, Christopher A. Walsh

Ann Neurol. Author manuscript; available in PMC 2014 Dec 1.

Published in final edited form as: Ann Neurol. 2013 Dec; 74(6): 873–882. doi: 10.1002/ana.23998

PMCID:: PMC4031329

Article PDF–3.2M

Select item 398042412.

Mutations in QARS, Encoding Glutaminyl-tRNA Synthetase, Cause Progressive Microcephaly, Cerebral-Cerebellar Atrophy, and Intractable Seizures

Xiaochang Zhang, Jiqiang Ling, Giulia Barcia, Lili Jing, Jiang Wu, Brenda J. Barry, Ganeshwaran H. Mochida, R. Sean Hill, Jill M. Weimer, Quinn Stein, Annapurna Poduri, Jennifer N. Partlow, Dorothée Ville, Olivier Dulac, Tim W. Yu, Anh-Thu N. Lam, Sarah Servattalab, Jacqueline Rodriguez, Nathalie Boddaert, Arnold Munnich, Laurence Colleaux, Leonard I. Zon, Dieter Söll, Christopher A. Walsh, Rima Nabbout

Am J Hum Genet. 2014 Apr 3; 94(4): 547–558. doi: 10.1016/j.ajhg.2014.03.003

PMCID:: PMC3980424

Article PDF–2.3M

Select item 385129613.

Homozygous PLCB1 Deletion Associated with Malignant Migrating Partial Seizures in Infancy

Annapurna Poduri, Sameer S. Chopra, Edward G. Neilan, P. Christina Elhosary, Manju A. Kurian, Esther Meyer, Brenda J. Barry, Omar S. Khwaja, Mustafa A. M. Salih, Dr Med Sci, Tommy Stödberg, Ingrid E. Scheffer, Eamonn R. Maher, Mustafa Sahin, Bai-Lin Wu, M Med, Gerard T. Berry, Christopher A. Walsh, Jonathan Picker, Sanjeev V. Kothare

Epilepsia. Author manuscript; available in PMC 2013 Dec 4.

Published in final edited form as: Epilepsia. 2012 Aug; 53(8): 10.1111/j.1528-1167.2012.03538.x. Published online 2012 Jun 12. doi: 10.1111/j.1528-1167.2012.03538.x

PMCID:: PMC3851296

Article PDF–1.0M

Select item 368754714.

De novo gain of function KCNT1 channel mutations cause malignant migrating partial seizures of infancy

Giulia Barcia, Matthew R. Fleming, Aline Deligniere, Valeswara-Rao Gazula, Maile R. Brown, Maeva Langouet, Haijun Chen, Jack Kronengold, Avinash Abhyankar, Roberta Cilio, Patrick Nitschke, Anna Kaminska, Nathalie Boddaert, Jean-Laurent Casanova, Isabelle Desguerre, Arnold Munnich, Olivier Dulac, Leonard K. Kaczmarek, Laurence Colleaux, Rima Nabbout

Nat Genet. Author manuscript; available in PMC 2013 Nov 1.

Published in final edited form as: Nat Genet. 2012 Nov; 44(11): 1255–1259. Published online 2012 Oct 21. doi: 10.1038/ng.2441

PMCID:: PMC3687547

Article PDF–1.7M

Select item 363420015.

Migrating partial seizures of infancy: expansion of the electroclinical, radiological and pathological disease spectrum

Amy McTague, Richard Appleton, Shivaram Avula, J. Helen Cross, Mary D. King, Thomas S. Jacques, Sanjay Bhate, Anthony Cronin, Andrew Curran, Archana Desurkar, Michael A. Farrell, Elaine Hughes, Rosalind Jefferson, Karine Lascelles, John Livingston, Esther Meyer, Ailsa McLellan, Annapurna Poduri, Ingrid E. Scheffer, Stefan Spinty, Manju A. Kurian, Rachel Kneen

Brain. 2013 May; 136(5): 1578–1591. Published online 2013 Apr 18. doi: 10.1093/brain/awt073

PMCID:: PMC3634200

Article PDF–1.5M

Select item 328291616.

Role of the neuronal K-Cl co-transporter KCC2 in inhibitory and excitatory neurotransmission

Ingrid Chamma, Quentin Chevy, Jean Christophe Poncer, Sabine Lévi

Front Cell Neurosci. 2012; 6: 5. Published online 2012 Feb 21. doi: 10.3389/fncel.2012.00005

PMCID:: PMC3282916

Article PDF–1.4M

Select item 314079817.

De novo SCN1A mutations in migrating partial seizures of infancy

D. Carranza Rojo, L. Hamiwka, J.M. McMahon, L.M. Dibbens, T. Arsov, A. Suls, T. Stödberg, K. Kelley, E. Wirrell, B. Appleton, M. Mackay, J.L. Freeman, S.C. Yendle, S.F. Berkovic, T. Bienvenu, P. De Jonghe, D.R. Thorburn, J.C. Mulley, H.C. Mefford, I.E. Scheffer

Neurology. 2011 Jul 26; 77(4): 380–383. doi: 10.1212/WNL.0b013e318227046d

PMCID:: PMC3140798

Article PDF–202K

Select item 309215818.

Novel SCN1A mutation in a patient with Malignant Migrating Partial Seizures of Infancy

Emily R. Freilich, Julie M. Jones, Christine Reyes, Sulayman Dib-Hajj, Stephen G. Waxman, Miriam H. Meisler, Phillip L. Pearl

Arch Neurol. Author manuscript; available in PMC 2012 May 1.

Published in final edited form as: Arch Neurol. 2011 May; 68(5): 665–671. doi: 10.1001/archneurol.2011.98

PMCID:: PMC3092158

Article PDF–2.1M

Select item 267947119.

Coexpression and Heteromerization of Two Neuronal K-Cl Cotransporter Isoforms in Neonatal Brain

Pavel Uvarov, Anastasia Ludwig, Marika Markkanen, Shetal Soni, Christian A. Hübner, Claudio Rivera, Matti S. Airaksinen

J Biol Chem. 2009 May 15; 284(20): 13696–13704. doi: 10.1074/jbc.M807366200

PMCID:: PMC2679471

Article PDF–1.0M

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