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Items: 1 to 20 of 106

1.
Benign infantile convulsion as a diagnostic clue of paroxysmal kinesigenic dyskinesia: a case series
Naoya Matsumoto, Satoru Takahashi, Akie Okayama, Akiko Araki, Hiroshi Azuma
J Med Case Rep. 2014; 8: 174. Published online 2014 Jun 1. doi: 10.1186/1752-1947-8-174
PMCID:
PMC4077686
AbstractArticlePDF–505K
2.
PRRT2 mutations in familial infantile seizures, paroxysmal dyskinesia, and hemiplegic migraine
Carla Marini, Valerio Conti, Davide Mei, Domenica Battaglia, Donatella Lettori, Emma Losito, Grazia Bruccini, Gaetano Tortorella, Renzo Guerrini
Neurology. 2012 Nov 20; 79(21): 2109–2114. doi: 10.1212/WNL.0b013e3182752ca2
PMCID:
PMC3511926
AbstractArticlePDF–753K
3.
Identification of a Novel Nonsense Mutation p.Tyr1957Ter of CACNA1A in a Chinese Family with Episodic Ataxia 2
Yafang Hu, Haishan Jiang, Qun Wang, Zuoshan Xie, Suyue Pan
PLoS One. 2013; 8(2): e56362. Published online 2013 Feb 18. doi: 10.1371/journal.pone.0056362
PMCID:
PMC3575407
AbstractArticlePDF–313K
4.
Genotype–phenotype correlations in neonatal epilepsies caused by mutations in the voltage sensor of Kv7.2 potassium channel subunits
Francesco Miceli, Maria Virginia Soldovieri, Paolo Ambrosino, Vincenzo Barrese, Michele Migliore, Maria Roberta Cilio, Maurizio Taglialatela
Proc Natl Acad Sci U S A. 2013 Mar 12; 110(11): 4386–4391. Published online 2013 Feb 25. doi: 10.1073/pnas.1216867110
PMCID:
PMC3600471
AbstractArticlePDF–801K
5.
Impaired NaV1.2 Function and Reduced Cell Surface Expression in Benign Familial Neonatal-Infantile Seizures
Sunita N. Misra, Kristopher M. Kahlig, Alfred L. George, Jr.
Epilepsia. Author manuscript; available in PMC 2013 May 8.
Published in final edited form as: Epilepsia. 2008 Sep; 49(9): 1535–1545. Published online 2008 Apr 21. doi: 10.1111/j.1528-1167.2008.01619.x
PMCID:
PMC3647030
AbstractArticlePDF–1.8M
6.
Similar early characteristics but variable neurological outcome of patients with a de novo mutation of KCNQ2
Mathieu Milh, Nadia Boutry-Kryza, Julie Sutera-Sardo, Cyril Mignot, Stéphane Auvin, Caroline Lacoste, Nathalie Villeneuve, Agathe Roubertie, Bénédicte Heron, Maryline Carneiro, Anna Kaminska, Cécilia Altuzarra, Gaëlle Blanchard, Dorothée Ville, Marie Anne Barthez, Delphine Heron, Domitille Gras, Alexandra Afenjar, Nathalie Dorison, Dianne Doummar, Thierry Billette de Villemeur, Isabelle An, Aurélia Jacquette, Perrine Charles, Julie Perrier, Bertrand Isidor, Laurent Vercueil, Brigitte Chabrol, Catherine Badens, Gaétan Lesca, Laurent Villard
Orphanet J Rare Dis. 2013; 8: 80. Published online 2013 May 22. doi: 10.1186/1750-1172-8-80
PMCID:
PMC3670812
AbstractArticlePDF–767K
7.
Effects of KCNQ2 Gene Truncation on M-Type Kv7 Potassium Currents
Jon Robbins, Gayle M. Passmore, Fe C. Abogadie, Joanne M. Reilly, David A. Brown
PLoS One. 2013; 8(8): e71809. Published online 2013 Aug 20. doi: 10.1371/journal.pone.0071809
PMCID:
PMC3748097
AbstractArticlePDF–430K
8.
Phenotypes and PRRT2 mutations in Chinese families with benign familial infantile epilepsy and infantile convulsions with paroxysmal choreoathetosis
Xiaoling Yang, Yuehua Zhang, Xiaojing Xu, Shuang Wang, Zhixian Yang, Ye Wu, Xiaoyan Liu, Xiru Wu
BMC Neurol. 2013; 13: 209. Published online 2013 Dec 26. doi: 10.1186/1471-2377-13-209
PMCID:
PMC3897939
AbstractArticlePDF–2.5M
9.
KCNQ2 encephalopathy: Delineation of the electroclinical phenotype and treatment response
Adam L. Numis, Marco Angriman, Joseph E. Sullivan, Ann J. Lewis, Pasquale Striano, Rima Nabbout, Maria R. Cilio
Neurology. 2014 Jan 28; 82(4): 368–370. doi: 10.1212/WNL.0000000000000060
PMCID:
PMC3929196
AbstractArticlePDF–184K
10.
The Kick-In System: A Novel Rapid Knock-In Strategy
Yuko Tomonoh, Masanobu Deshimaru, Kimi Araki, Yasuhiro Miyazaki, Tomoko Arasaki, Yasuyoshi Tanaka, Haruna Kitamura, Fumiaki Mori, Koichi Wakabayashi, Sayaka Yamashita, Ryo Saito, Masayuki Itoh, Taku Uchida, Junko Yamada, Keisuke Migita, Shinya Ueno, Hiroki Kitaura, Akiyoshi Kakita, Christoph Lossin, Yukio Takano, Shinichi Hirose
PLoS One. 2014; 9(2): e88549. Published online 2014 Feb 19. doi: 10.1371/journal.pone.0088549
Correction in:
PLoS One. 2014; 9(8): e106125.
PMCID:
PMC3929540
AbstractArticlePDF–2.8M
11.
Episodic ataxia type 1: clinical characterization, quality of life and genotype–phenotype correlation
Tracey D. Graves, Yoon-Hee Cha, Angelika F. Hahn, Richard Barohn, Mohammed K. Salajegheh, Robert C. Griggs, Brian N. Bundy, Joanna C. Jen, Robert W. Baloh, Michael G. Hanna
Brain. 2014 Apr; 137(4): 1009–1018. Published online 2014 Feb 26. doi: 10.1093/brain/awu012
PMCID:
PMC3959554
AbstractArticlePDF–343K
12.
Kcnq1-5 (Kv7.1-5) potassium channel expression in the adult zebrafish
Calvin Wu, Kanishk Sharma, Kyle Laster, Mohamed Hersi, Christina Torres, Thomas J Lukas, Ernest J Moore
BMC Physiol. 2014; 14: 1. Published online 2014 Feb 20. doi: 10.1186/1472-6793-14-1
PMCID:
PMC4016485
AbstractArticlePDF–2.2M
13.
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
AbstractArticlePDF–3.2M
14.
Autosomal Dominant Familial Dyskinesia and Facial Myokymia: Single Exome Sequencing Identifies a Mutation in Adenylate Cyclase 5
Ying-Zhang Chen, Mark M. Matsushita, Peggy Robertson, Mark Rieder, Santhosh Girirajan, Francesca Antonacci, Hillary Lipe, Evan E. Eichler, Deborah A. Nickerson, Thomas D. Bird, Wendy H. Raskind
Arch Neurol. Author manuscript; available in PMC 2013 May 1.
Published in final edited form as: Arch Neurol. 2012 May; 69(5): 630–635. doi: 10.1001/archneurol.2012.54
PMCID:
PMC3508680
AbstractArticlePDF–1.0M
15.
A Homozygous KCNJ10 Mutation in Jack Russell Terriers and Related Breeds with Spinocerebellar Ataxia with Myokymia, Seizures, or Both
D. Gilliam, D.P. O'Brien, J.R. Coates, G.S. Johnson, G.C. Johnson, T. Mhlanga‐Mutangadura, L. Hansen, J.F. Taylor, R.D. Schnabel
J Vet Intern Med. 2014 May-Jun; 28(3): 871–877. Published online 2014 Apr 7. doi: 10.1111/jvim.12355
PMCID:
PMC4238845
AbstractArticlePDF–489K
16.
Clinical, genetic, neurophysiological and functional study of new mutations in episodic ataxia type 1
Susan Elizabeth Tomlinson, Sanjeev Rajakulendran, Stella Veronica Tan, Tracey Dawn Graves, Doris-Eva Bamiou, Robyn W Labrum, David Burke, Carolyn M Sue, Paola Giunti, Stephanie Schorge, Dimitri M Kullmann, Michael G Hanna
J Neurol Neurosurg Psychiatry. 2013 Oct; 84(10): 1107–1112. Published online 2013 Jan 24. doi: 10.1136/jnnp-2012-304131
PMCID:
PMC4332158
AbstractArticlePDF–2.4M
17.
Whole-exome sequencing as a diagnostic tool in a family with episodic ataxia type 1
Pawel Tacik, Kimberly J. Guthrie, Audrey J. Strongosky, Daniel F. Broderick, Douglas L. Riegert-Johnson, Sha Tang, Dima El-Khechen, Alexander S. Parker, Owen A. Ross, Zbigniew K. Wszolek
Mayo Clin Proc. Author manuscript; available in PMC 2016 Mar 1.
Published in final edited form as: Mayo Clin Proc. 2015 Mar; 90(3): 366–371. Published online 2015 Feb 3. doi: 10.1016/j.mayocp.2015.01.001
PMCID:
PMC4354704
AbstractArticlePDF–209K
18.
A KCNJ10 mutation previously identified in the Russell group of terriers also occurs in Smooth-Haired Fox Terriers with hereditary ataxia and in related breeds
Cecilia Rohdin, Douglas Gilliam, Caroline A. O’Leary, Dennis P. O’Brien, Joan R. Coates, Gary S. Johnson, Karin Hultin Jäderlund
Acta Vet Scand. 2015; 57(1): 26. Published online 2015 May 23. doi: 10.1186/s13028-015-0115-1
PMCID:
PMC4445810
AbstractArticlePDF–323K
19.
Gain-of-Function ADCY5 Mutations in Familial Dyskinesia with Facial Myokymia
Ying-Zhang Chen, Jennifer R. Friedman, Dong-Hui Chen, Guy C.-K. Chan, Cinnamon S. Bloss, Fuki M. Hisama, Sarah E. Topol, Andrew R. Carson, Phillip H. Pham, Emily S. Bonkowski, Erick R. Scott, Janel K. Lee, Guangfa Zhang, Glenn Oliveira, Jian Xu, Ashley A. Scott-Van Zeeland, Qi Chen, Samuel Levy, Eric J. Topol, Daniel Storm, Phillip D. Swanson, Thomas D. Bird, Nicholas J. Schork, Wendy H. Raskind, Ali Torkamani
Ann Neurol. Author manuscript; available in PMC 2015 Jun 5.
Published in final edited form as: Ann Neurol. 2014 Apr; 75(4): 542–549. Published online 2014 Mar 13. doi: 10.1002/ana.24119
PMCID:
PMC4457323
AbstractArticlePDF–1.6M
20.
ADCY5 mutations are another cause of benign hereditary chorea
Niccolo E. Mencacci, Roberto Erro, Sarah Wiethoff, Joshua Hersheson, Mina Ryten, Bettina Balint, Christos Ganos, Maria Stamelou, Niall Quinn, Henry Houlden, Nicholas W. Wood, Kailash P. Bhatia
Neurology. 2015 Jul 7; 85(1): 80–88. doi: 10.1212/WNL.0000000000001720
PMCID:
PMC4501937
AbstractArticlePDF–651K

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