PMC Links for Gene (Select 6792) - PMC

Result Filters

Links from Gene

Items: 1 to 20 of 56

<< First< Prev

Page of 3

Select item 111456011.

First report of Tunisian patients with CDKL5‐related encephalopathy

Chahnez Charfi Triki, Salma Zouari Mallouli, Marwa Ben Jdila, Mariem Ben Said, Fatma Kamoun Feki, Sarah Weckhuysen, Sabeur Masmoudi, Faiza Fakhfakh

Epilepsia Open. 2024 Jun; 9(3): 906–917. Published online 2024 Apr 29. doi: 10.1002/epi4.12824

PMCID:: PMC11145601

Abstract Article PDF–619K

Select item 107604322.

The Development, Content and Response Process Validation of a Caregiver-Reported Severity Measure for CDKL5 Deficiency Disorder

Sonja I Ziniel, Alexandra Mackie, Jacinta Saldaris, Helen Leonard, Peter Jacoby, Eric D. Marsh, Bernhard Suter, Elia Pestana-Knight, Heather E. Olson, Dana Price, Judith Weisenberg, Rajsekar Rajaraman, Gina VanderVeen, Tim A. Benke, Jenny Downs, Scott Demarest

Epilepsy Res. Author manuscript; available in PMC 2024 Jan 2.

Published in final edited form as: Epilepsy Res. 2023 Nov; 197: 107231. Published online 2023 Sep 20. doi: 10.1016/j.eplepsyres.2023.107231

PMCID:: PMC10760432

Abstract Article PDF–728K

Select item 104724913.

CDKL5 deficiency disorder: progressive brain atrophy may be part of the syndrome

Nicola Specchio, Marina Trivisano, Matteo Lenge, Alessandro Ferretti, Davide Mei, Elena Parrini, Antonio Napolitano, Camilla Rossi-Espagnet, Giacomo Talenti, Daniela Longo, Jacopo Proietti, Francesca Ragona, Elena Freri, Roberta Solazzi, Tiziana Granata, Francesca Darra, Bernardo Dalla Bernardina, Federico Vigevano, Renzo Guerrini

Cereb Cortex. 2023 Sep 1; 33(17): 9709–9717. Published online 2023 Jul 10. doi: 10.1093/cercor/bhad235

Correction in:: Cereb Cortex. 2024 Feb; 34(2): bhae059.

PMCID:: PMC10472491

Abstract Article PDF–874K

Select item 98993104.

Psychometric properties of QI-Disability in CDKL5 Deficiency Disorder: Establishing readiness for clinical trials

Jacinta M. Saldaris, Peter Jacoby, Helen Leonard, Tim A. Benke, Scott Demarest, Eric D. Marsh, Jenny Downs

Epilepsy Behav. Author manuscript; available in PMC 2024 Feb 1.

Published in final edited form as: Epilepsy Behav. 2023 Feb; 139: 109069. Published online 2023 Jan 10. doi: 10.1016/j.yebeh.2022.109069

PMCID:: PMC9899310

Abstract Article PDF–346K

Select item 98861325.

Analysis of electrocardiograms in individuals with CDKL5 deficiency disorder

Jessica Stansauk, Andrea Fidell, Tim Benke, Michael Schaffer, Scott T. Demarest

Am J Med Genet A. Author manuscript; available in PMC 2023 Jan 30.

Published in final edited form as: Am J Med Genet A. 2023 Jan; 191(1): 108–111. Published online 2022 Nov 13. doi: 10.1002/ajmg.a.62995

PMCID:: PMC9886132

Abstract Article PDF–368K

Select item 97888336.

CDKL5 deficiency disorder: clinical features, diagnosis, and management

Helen Leonard, Jenny Downs, Tim A Benke, Lindsay Swanson, Heather Olson, Scott Demarest

Lancet Neurol. Author manuscript; available in PMC 2022 Dec 23.

Published in final edited form as: Lancet Neurol. 2022 Jun; 21(6): 563–576. Published online 2022 Apr 25. doi: 10.1016/S1474-4422(22)00035-7

PMCID:: PMC9788833

Abstract Article PDF–747K

Select item 71209297.

Cyclin-dependent kinase-like 5 (CDKL5) deficiency disorder: clinical review

Heather E. Olson, Scott T. Demarest, Elia M. Pestana-Knight, Lindsay C. Swanson, Sumaiya Iqbal, Dennis Lal, Helen Leonard, J. Helen Cross, Orrin Devinsky, Tim A. Benke

Pediatr Neurol. Author manuscript; available in PMC 2020 Aug 1.

Published in final edited form as: Pediatr Neurol. 2019 Aug; 97: 18–25. Published online 2019 Feb 23. doi: 10.1016/j.pediatrneurol.2019.02.015

PMCID:: PMC7120929

Abstract Article PDF–909K

Select item 70497328.

Artificial escape from XCI by DNA methylation editing of the CDKL5 gene

Julian A N M Halmai, Peter Deng, Casiana E Gonzalez, Nicole B Coggins, David Cameron, Jasmine L Carter, Fiona K B Buchanan, Jennifer J Waldo, Samantha R Lock, Johnathon D Anderson, Henriette O’Geen, David J Segal, Jan Nolta, Kyle D Fink

Nucleic Acids Res. 2020 Mar 18; 48(5): 2372–2387. Published online 2020 Jan 11. doi: 10.1093/nar/gkz1214

PMCID:: PMC7049732

Abstract Article PDF–3.0M

Select item 70481489.

Novel CDKL5 mutations were found in patients in China: retrospective investigation in cases of CDKL5-related disorders

Yumei Yan, Dake He, Jing Wu, Ruolin Hou, Kun Sun, Ling Li

Ital J Pediatr. 2020; 46: 27. Published online 2020 Feb 28. doi: 10.1186/s13052-020-0775-y

PMCID:: PMC7048148

Abstract Article PDF–1.2M

Select item 699633310.

CDKL5 promotes proliferation, migration, and chemotherapeutic drug resistance of glioma cells via activation of the PI3K/AKT signaling pathway

Zhenfu Jiang, Tongtong Gong, Hong Wei

FEBS Open Bio. 2020 Feb; 10(2): 268–277. Published online 2020 Jan 21. doi: 10.1002/2211-5463.12780

PMCID:: PMC6996333

Abstract Article PDF–1.7M

Select item 629327911.

Phosphoproteomic screening identifies physiological substrates of the CDKL5 kinase

Ivan M Muñoz, Michael E Morgan, Julien Peltier, Florian Weiland, Mateusz Gregorczyk, Fiona CM Brown, Thomas Macartney, Rachel Toth, Matthias Trost, John Rouse

EMBO J. 2018 Dec 14; 37(24): e99559. Published online 2018 Sep 28. doi: 10.15252/embj.201899559

PMCID:: PMC6293279

Abstract Article PDF–1.8M

Select item 629327512.

A new consensus for evaluating CDKL5/STK9‐dependent signalling mechanisms

Patrick A Eyers

EMBO J. 2018 Dec 14; 37(24): e100848. Published online 2018 Oct 30. doi: 10.15252/embj.2018100848

PMCID:: PMC6293275

Abstract Article PDF–275K

Select item 598317113.

Mutation in an alternative transcript of CDKL5 in a boy with early-onset seizures

Dale L. Bodian, John M. Schreiber, Thierry Vilboux, Alina Khromykh, Natalie S. Hauser

Cold Spring Harb Mol Case Stud. 2018 Jun; 4(3): a002360. doi: 10.1101/mcs.a002360

PMCID:: PMC5983171

Abstract Article PDF–1.4M

Select item 393897414.

Clinical features and gene mutational spectrum of CDKL5-related diseases in a cohort of Chinese patients

Ying Zhao, Xiaoying Zhang, Xinhua Bao, Qingping Zhang, Jingjing Zhang, Guangna Cao, Jie Zhang, Jiarui Li, Liping Wei, Hong Pan, Xiru Wu

BMC Med Genet. 2014; 15: 24. Published online 2014 Feb 25. doi: 10.1186/1471-2350-15-24

PMCID:: PMC3938974

Abstract Article PDF–201K

Select item 389564915.

Mutations in the C-terminus of CDKL5: proceed with caution

Bertrand Diebold, Chloé Delépine, Svetlana Gataullina, Andrée Delahaye, Juliette Nectoux, Thierry Bienvenu

Eur J Hum Genet. 2014 Feb; 22(2): 270–272. Published online 2013 Jun 12. doi: 10.1038/ejhg.2013.133

PMCID:: PMC3895649

Abstract Article PDF–395K

Select item 348957816.

CDKL5 gene status in female patients with epilepsy and Rett-like features: two new mutations in the catalytic domain

Hiart Maortua, Cristina Martínez-Bouzas, María-Teresa Calvo, Maria-Rosario Domingo, Feliciano Ramos, Ainhoa García-Ribes, María-Jesús Martínez, María-Asunción López-Aríztegui, Nerea Puente, Izaskun Rubio, María-Isabel Tejada

BMC Med Genet. 2012; 13: 68. Published online 2012 Aug 6. doi: 10.1186/1471-2350-13-68

PMCID:: PMC3489578

Abstract Article PDF–655K

Select item 338564817.

What We Know and Would Like to Know about CDKL5 and Its Involvement in Epileptic Encephalopathy

Charlotte Kilstrup-Nielsen, Laura Rusconi, Paolo La Montanara, Dalila Ciceri, Anna Bergo, Francesco Bedogni, Nicoletta Landsberger

Neural Plast. 2012; 2012: 728267. Published online 2012 Jun 17. doi: 10.1155/2012/728267

PMCID:: PMC3385648

Abstract Article PDF–1.6M

Select item 321810618.

iPS cells to model CDKL5-related disorders

Mariangela Amenduni, Roberta De Filippis, Aaron Y L Cheung, Vittoria Disciglio, Maria Carmela Epistolato, Francesca Ariani, Francesca Mari, Maria Antonietta Mencarelli, Youssef Hayek, Alessandra Renieri, James Ellis, Ilaria Meloni

Eur J Hum Genet. 2011 Dec; 19(12): 1246–1255. Published online 2011 Jul 13. doi: 10.1038/ejhg.2011.131