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Select item 107963441.

Morphometric network-based abnormalities correlate with psychiatric comorbidities and gene expression in PCDH19-related developmental and epileptic encephalopathy

Matteo Lenge, Simona Balestrini, Antonio Napolitano, Davide Mei, Valerio Conti, Giulia Baldassarri, Marina Trivisano, Simona Pellacani, Letizia Macconi, Daniela Longo, Maria Camilla Rossi Espagnet, Simona Cappelletti, PCDH19 Clinical Study Group, Ludovico D’Incerti, Carmen Barba, Nicola Specchio, Renzo Guerrini

Transl Psychiatry. 2024; 14: 35. Published online 2024 Jan 18. doi: 10.1038/s41398-024-02753-x

PMCID:: PMC10796344

Article PDF–2.2M

Select item 100482322.

PCDH19 in Males: Are Hemizygous Variants Linked to Autism?

Eliane Chouery, Jana Makhlouf, Wassim Daoud Khatoun, Cybel Mehawej, Andre Megarbane

Genes (Basel) 2023 Mar; 14(3): 598. Published online 2023 Feb 27. doi: 10.3390/genes14030598

PMCID:: PMC10048232

Article PDF–270K

Select item 96693183.

Yi Chen, Xiaoxu Yang, Jiaoyang Chen, Xiaoling Yang, Ying Yang, Aijie Liu, Xiaoli Zhang, Wenjuan Wu, Dan Sun, Zhixian Yang, Yuwu Jiang, Yuehua Zhang

Front Neurol. 2022; 13: 1041509. Published online 2022 Nov 3. doi: 10.3389/fneur.2022.1041509

PMCID:: PMC9669318

Article PDF–741K

Select item 93869234.

Expanding the genetic and clinical characteristics of Protocadherin 19 gene mutations

Giovanni Battista Dell’Isola, Elisabetta Mencaroni, Antonella Fattorusso, Giorgia Tascini, Paolo Prontera, Valentina Imperatore, Giuseppe Di Cara, Pasquale Striano, Alberto Verrotti

BMC Med Genomics. 2022; 15: 181. Published online 2022 Aug 17. doi: 10.1186/s12920-022-01313-w

PMCID:: PMC9386923

Article PDF–1.2M

Select item 91527035.

The epilepsy-associated protein PCDH19 undergoes NMDA receptor-dependent proteolytic cleavage and regulates the expression of immediate-early genes

Laura Gerosa, Sara Mazzoleni, Francesco Rusconi, Alessandra Longaretti, Elly Lewerissa, Silvia Pelucchi, Luca Murru, Serena Gea Giannelli, Vania Broccoli, Elena Marcello, Nael Nadif Kasri, Elena Battaglioli, Maria Passafaro, Silvia Bassani

Cell Rep. 2022 May 24; 39(8): 110857. Published online 2022 May 24. doi: 10.1016/j.celrep.2022.110857

PMCID:: PMC9152703

Article

Select item 81440156.

Comparative characterization of PCDH19 missense and truncating variants in PCDH19-related epilepsy

Mami Shibata, Atsushi Ishii, Ayako Goto, Shinichi Hirose

J Hum Genet. 2021; 66(6): 569–578. Published online 2020 Dec 2. doi: 10.1038/s10038-020-00880-z

PMCID:: PMC8144015

Article PDF–1.5M

Select item 75798717.

Two novel PCDH19 mutations in Russian patients with epilepsy with intellectual disability limited to females: a case report

Anastasiya Aleksandrovna Kozina, Elena Grigorievna Okuneva, Natalia Vladimirovna Baryshnikova, Inessa Dmitrievna Fedonyuk, Alexey Aleksandrovich Kholin, Elena Stepanovna Il’ina, Anna Yurievna Krasnenko, Ivan Fedorovich Stetsenko, Nikolay Alekseevich Plotnikov, Olesia Igorevna Klimchuk, Ekaterina Ivanovna Surkova, Valery Vladimirovich Ilinsky

BMC Med Genet. 2020; 21: 209. Published online 2020 Oct 21. doi: 10.1186/s12881-020-01119-6

PMCID:: PMC7579871

Article PDF–2.9M

Select item 72840318.

A novel PCDH19 missense mutation, c.812G>A (p.Gly271Asp), identified using whole‐exome sequencing in a Chinese family with epilepsy female restricted mental retardation syndrome

Xuechao Zhao, Yanhong Wang, Shiyue Mei, Xiangdong Kong

Mol Genet Genomic Med. 2020 Jun; 8(6): e1234. Published online 2020 Apr 21. doi: 10.1002/mgg3.1234

PMCID:: PMC7284031

Article PDF–673K

Select item 71985039.

A standardized patient-centered characterization of the phenotypic spectrum of PCDH19 girls clustering epilepsy

Kristy L. Kolc, Lynette G. Sadleir, Christel Depienne, Carla Marini, Ingrid E. Scheffer, Rikke S. Møller, Marina Trivisano, Nicola Specchio, Duyen Pham, Raman Kumar, Rachel Roberts, Jozef Gecz

Transl Psychiatry. 2020; 10: 127. Published online 2020 May 4. doi: 10.1038/s41398-020-0803-0

PMCID:: PMC7198503

Article PDF–1.3M

Select item 658108010.

Mosaicism and incomplete penetrance of PCDH19 mutations

Aijie Liu, Xiaoxu Yang, Xiaoling Yang, Qixi Wu, Jing Zhang, Dan Sun, Zhixian Yang, Yuwu Jiang, Xiru Wu, Liping Wei, Yuehua Zhang

J Med Genet. 2019 Feb; 56(2): 81–88. Published online 2018 Oct 4. doi: 10.1136/jmedgenet-2017-105235

PMCID:: PMC6581080

Article PDF–2.3M

Select item 634437211.

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

Article PDF–860K

Select item 626491212.

Lacey Smith, Nilika Singhal, Christelle M. El Achkar, Gessica Truglio, Rosen-Sheidley Beth, Joseph Sullivan, Annapurna Poduri

Epilepsia. Author manuscript; available in PMC 2019 Mar 1.

Published in final edited form as: Epilepsia. 2018 Mar; 59(3): 679–689. Published online 2018 Jan 28. doi: 10.1111/epi.14003

Correction in:: Epilepsia. 2018 Jun; 59(6): 1272.

PMCID:: PMC6264912

Article PDF–504K

Select item 598765013.

Chinese cases of early infantile epileptic encephalopathy: a novel mutation in the PCDH19 gene was proved in a mosaic male- case report

Yuxia Tan, Mei Hou, Shaochun Ma, Peipei Liu, Shungang Xia, Yu Wang, Liping Chen, Zongbo Chen

BMC Med Genet. 2018; 19: 92. Published online 2018 Jun 4. doi: 10.1186/s12881-018-0621-x

PMCID:: PMC5987650

Article PDF–1.1M

Select item 552251514.

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

Article PDF–409K

Select item 469495415.

Characterizing PCDH19 in human induced pluripotent stem cells (iPSCs) and iPSC-derived developing neurons: emerging role of a protein involved in controlling polarity during neurogenesis

Claudia Compagnucci, Stefania Petrini, Norimichi Higuraschi, Marina Trivisano, Nicola Specchio, Shinichi Hirose, Enrico Bertini, Alessandra Terracciano

Oncotarget. 2015 Sep 29; 6(29): 26804–26813. Published online 2015 Sep 21. doi: 10.18632/oncotarget.5757

PMCID:: PMC4694954

Article PDF–1.9M

Select item 303351716.

Mutations and Deletions in PCDH19 Account for Various Familial or Isolated Epilepsies in Females

Christel Depienne, Oriane Trouillard, Delphine Bouteiller, Isabelle Gourfinkel-An, Karine Poirier, François Rivier, Patrick Berquin, Rima Nabbout, Denys Chaigne, Dominique Steschenko, Agnès Gautier, Dorota Hoffman-Zacharska, Annie Lannuzel, Marilyn Lackmy-Port-Lis, Hélène Maurey, Anne Dusser, Marie Bru, Brigitte Gilbert-Dussardier, Agathe Roubertie, Anna Kaminska, Sandra Whalen, Cyril Mignot, Stéphanie Baulac, Gaetan Lesca, Alexis Arzimanoglou, Eric LeGuern

Hum Mutat. 2011 Jan; 32(1): E1959–E1975. doi: 10.1002/humu.21373

PMCID:: PMC3033517

Article PDF–577K

Select item 275641317.

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

Article PDF–3.1M

Select item 340501718.

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

Article PDF–504K

Select item 263304419.

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

Article PDF–1.1M

Select item 702154920.

PTPRA Phosphatase Regulates GDNF-Dependent RET Signaling and Inhibits the RET Mutant MEN2A Oncogenic Potential

Leena Yadav, Elina Pietilä, Tiina Öhman, Xiaonan Liu, Arun K. Mahato, Yulia Sidorova, Kaisa Lehti, Mart Saarma, Markku Varjosalo

iScience. 2020 Feb 21; 23(2): 100871. Published online 2020 Jan 31. doi: 10.1016/j.isci.2020.100871

PMCID:: PMC7021549

Article PDF–8.1M

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