PMC Links for Nucleotide (Select 1677500522) - PMC

Select item 63443721.

A systematic review and meta-analysis of 271 PCDH19-variant individuals identifies psychiatric comorbidities, and association of seizure onset and disease severity

Kristy L Kolc, Lynette G Sadleir, Ingrid E Scheffer, Atma Ivancevic, Rachel Roberts, Duyen H Pham, Jozef Gecz

Mol Psychiatry. 2019; 24(2): 241–251. Published online 2018 Jun 11. doi: 10.1038/s41380-018-0066-9

PMCID:: PMC6344372

Abstract Article PDF–860K

Select item 27564132.

X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment

Leanne M Dibbens, Patrick S Tarpey, Kim Hynes, Marta A Bayly, Ingrid E Scheffer, Raffaella Smith, Jamee Bomar, Edwina Sutton, Lucianne Vandeleur, Cheryl Shoubridge, Sarah Edkins, Samantha J Turner, Claire Stevens, Sarah O’Meara, Calli Tofts, Syd Barthorpe, Gemma Buck, Jennifer Cole, Kelly Halliday, David Jones, Rebecca Lee, Mark Madison, Tatiana Mironenko, Jennifer Varian, Sofie West, Sara Widaa, Paul Wray, John Teague, Ed Dicks, Adam Butler, Andrew Menzies, Andrew Jenkinson, Rebecca Shepherd, James F Gusella, Zaid Afawi, Aziz Mazarib, Miriam Y Neufeld, Sara Kivity, Dorit Lev, Tally Lerman-Sagie, Amos D Korczyn, Christopher P Derry, Grant R Sutherland, Kathryn Friend, Marie Shaw, Mark Corbett, Hyung-Goo Kim, Daniel H Geschwind, Paul Thomas, Eric Haan, Stephen Ryan, Shane McKee, Samuel F Berkovic, P Andrew Futreal, Michael R Stratton, John C Mulley, Jozef Gécz

Nat Genet. Author manuscript; available in PMC 2009 Oct 3.

Published in final edited form as: Nat Genet. 2008 Jun; 40(6): 776–781. Published online 2008 May 11. doi: 10.1038/ng.149

PMCID:: PMC2756413

Abstract Article PDF–3.1M

Select item 26330443.

Sporadic Infantile Epileptic Encephalopathy Caused by Mutations in PCDH19 Resembles Dravet Syndrome but Mainly Affects Females

Christel Depienne, Delphine Bouteiller, Boris Keren, Emmanuel Cheuret, Karine Poirier, Oriane Trouillard, Baya Benyahia, Chloé Quelin, Wassila Carpentier, Sophie Julia, Alexandra Afenjar, Agnès Gautier, François Rivier, Sophie Meyer, Patrick Berquin, Marie Hélias, Isabelle Py, Serge Rivera, Nadia Bahi-Buisson, Isabelle Gourfinkel-An, Cécile Cazeneuve, Merle Ruberg, Alexis Brice, Rima Nabbout, Eric LeGuern

PLoS Genet. 2009 Feb; 5(2): e1000381. Published online 2009 Feb 13. doi: 10.1371/journal.pgen.1000381

Correction in:: PLoS Genet. 2009 Apr; 5(4): 10.1371/annotation/314060d5-06da-46e0-b9e4-57194e8ece3a.

PMCID:: PMC2633044

Abstract Article PDF–1.1M

Select item 66607004.

A clinical survey of mosaic single nucleotide variants in disease-causing genes detected by exome sequencing

Ye Cao, Mari J. Tokita, Edward S. Chen, Rajarshi Ghosh, Tiansheng Chen, Yanming Feng, Elizabeth Gorman, Federica Gibellini, Patricia A. Ward, Alicia Braxton, Xia Wang, Linyan Meng, Rui Xiao, Weimin Bi, Fan Xia, Christine M. Eng, Yaping Yang, Tomasz Gambin, Chad Shaw, Pengfei Liu, Pawel Stankiewicz

Genome Med. 2019; 11: 48. Published online 2019 Jul 26. doi: 10.1186/s13073-019-0658-2

PMCID:: PMC6660700

Abstract Article PDF–980K

Select item 65365925.

Diagnostic Yield and Treatment Impact of Targeted Exome Sequencing in Early-Onset Epilepsy

Michelle Demos, Ilaria Guella, Conrado DeGuzman, Marna B. McKenzie, Sarah E. Buerki, Daniel M. Evans, Eric B. Toyota, Cyrus Boelman, Linda L. Huh, Anita Datta, Aspasia Michoulas, Kathryn Selby, Bruce H. Bjornson, Gabriella Horvath, Elena Lopez-Rangel, Clara D. M. van Karnebeek, Ramona Salvarinova, Erin Slade, Patrice Eydoux, Shelin Adam, Margot I. Van Allen, Tanya N. Nelson, Corneliu Bolbocean, Mary B. Connolly, Matthew J. Farrer

Front Neurol. 2019; 10: 434. Published online 2019 May 21. doi: 10.3389/fneur.2019.00434

PMCID:: PMC6536592

Abstract Article PDF–405K

Select item 63200266.

Case report of a novel PCDH19 frameshift mutation in a girl with epilepsy and mental retardation limited to females

Xinying Zhang, Na Chen, Aihua Ma, Xueyu Wang, Wenxiu Sun, Yuxing Gao

Medicine (Baltimore) 2018 Dec; 97(51): e13749. Published online 2018 Dec 21. doi: 10.1097/MD.0000000000013749

PMCID:: PMC6320026

Abstract Article PDF–890K

Select item 61259907.

Novel and de novo mutations in pediatric refractory epilepsy

Jing Liu, Lili Tong, Shuangshuang Song, Yue Niu, Jun Li, Xiu Wu, Jie Zhang, Celement C. Zai, Fang Luo, Jian Wu, Haiyin Li, Albert H. C. Wong, Ruopeng Sun, Fang Liu, Baomin Li

Mol Brain. 2018; 11: 48. Published online 2018 Sep 5. doi: 10.1186/s13041-018-0392-5

Correction in:: Mol Brain. 2018; 11: 59.

PMCID:: PMC6125990

Abstract Article PDF–980K

Select item 57940578.

Whole exome sequencing in neurogenetic odysseys: An effective, cost- and time-saving diagnostic approach

Marta Córdoba, Sergio Alejandro Rodriguez-Quiroga, Patricia Analía Vega, Valeria Salinas, Josefina Perez-Maturo, Hernán Amartino, Cecilia Vásquez-Dusefante, Nancy Medina, Dolores González-Morón, Marcelo Andrés Kauffman

PLoS One. 2018; 13(2): e0191228. Published online 2018 Feb 1. doi: 10.1371/journal.pone.0191228

PMCID:: PMC5794057

Abstract Article PDF–1.8M

Select item 55225159.

Male patients affected by mosaic PCDH19 mutations: five new cases

I. M. de Lange, P. Rump, R. F. Neuteboom, P. B. Augustijn, K. Hodges, A. I. Kistemaker, O. F. Brouwer, G. M. S. Mancini, H. A. Newman, Y. J. Vos, K. L. Helbig, C. Peeters-Scholte, M. Kriek, N. V. Knoers, D. Lindhout, B. P. C. Koeleman, M. J. A. van Kempen, E. H. Brilstra

Neurogenetics. 2017; 18(3): 147–153. Published online 2017 Jul 1. doi: 10.1007/s10048-017-0517-5

PMCID:: PMC5522515

Abstract Article PDF–409K

Select item 543752910.

Protocadherin 19 (PCDH19) interacts with paraspeckle protein NONO to co-regulate gene expression with estrogen receptor alpha (ERα)

Duyen H. Pham, Chuan C. Tan, Claire C. Homan, Kristy L. Kolc, Mark A. Corbett, Dale McAninch, Archa H. Fox, Paul Q. Thomas, Raman Kumar, Jozef Gecz

Hum Mol Genet. 2017 Jun 1; 26(11): 2042–2052. Published online 2017 Mar 17. doi: 10.1093/hmg/ddx094

PMCID:: PMC5437529

Abstract Article PDF–637K

Select item 490727111.

Molecular pathways associated with transcriptional alterations in hyperparathyroidism

FANG LEE, JIE-JEN LEE, WOAN-CHING JAN, CHIH-JEN WU, HAN-HSIANG CHEN, SHIH-PING CHENG

Oncol Lett. 2016 Jul; 12(1): 621–626. Published online 2016 May 25. doi: 10.3892/ol.2016.4623

PMCID:: PMC4907271

Abstract Article PDF–387K

Select item 442386112.

Analysis of Mutations in 7 Genes Associated with Neuronal Excitability and Synaptic Transmission in a Cohort of Children with Non-Syndromic Infantile Epileptic Encephalopathy

Anna Ka-Yee Kwong, Alvin Chi-Chung Ho, Cheuk-Wing Fung, Virginia Chun-Nei Wong

PLoS One. 2015; 10(5): e0126446. Published online 2015 May 7. doi: 10.1371/journal.pone.0126446

PMCID:: PMC4423861

Abstract Article PDF–662K

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