Literature DB >> 32203572

Proof-of-concept for a gene replacement approach to CDKL5 deficiency disorder.

Tim A Benke1,2, Peter C Kind3.   

Abstract

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Year:  2020        PMID： 32203572      PMCID： PMC7089659          DOI： 10.1093/brain/awaa055

Source DB:  PubMed          Journal:  Brain        ISSN： 0006-8950            Impact factor:   13.501


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  12 in total

Review 1.  Cyclin-Dependent Kinase-Like 5 Deficiency Disorder: Clinical Review.

Authors:  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
Journal:  Pediatr Neurol       Date:  2019-02-23       Impact factor: 3.372

2.  Neurodevelopmental and neurobehavioral characteristics in males and females with CDKL5 duplications.

Authors:  Przemyslaw Szafranski; Sailaja Golla; Weihong Jin; Ping Fang; Patricia Hixson; Reuben Matalon; Daniel Kinney; Hans-Georg Bock; William Craigen; Janice L Smith; Weimin Bi; Ankita Patel; Sau Wai Cheung; Carlos A Bacino; Paweł Stankiewicz
Journal:  Eur J Hum Genet       Date:  2014-10-15       Impact factor: 4.246

3.  Gene replacement ameliorates deficits in mouse and human models of cyclin-dependent kinase-like 5 disorder.

Authors:  Yunan Gao; Elaine E Irvine; Ioanna Eleftheriadou; Carlos Jiménez Naranjo; Francesca Hearn-Yeates; Leontien Bosch; Justyna A Glegola; Leah Murdoch; Aleksandra Czerniak; Ilaria Meloni; Alessandra Renieri; Maria Kinali; Nicholas D Mazarakis
Journal:  Brain       Date:  2020-03-01       Impact factor: 13.501

4.  CDKL5 deficiency disorder: Relationship between genotype, epilepsy, cortical visual impairment, and development.

Authors:  Scott T Demarest; Heather E Olson; Angela Moss; Elia Pestana-Knight; Xiaoming Zhang; Sumit Parikh; Lindsay C Swanson; Katherine D Riley; Grace A Bazin; Katie Angione; Lisa-Marie Niestroj; Dennis Lal; Elizabeth Juarez-Colunga; Tim A Benke
Journal:  Epilepsia       Date:  2019-07-16       Impact factor: 5.864

5.  Rett syndrome in Australia: a review of the epidemiology.

Authors:  Crystal L Laurvick; Nicholas de Klerk; Carol Bower; John Christodoulou; David Ravine; Carolyn Ellaway; Sarah Williamson; Helen Leonard
Journal:  J Pediatr       Date:  2006-03       Impact factor: 4.406

6.  Reversal of neurological defects in a mouse model of Rett syndrome.

Authors:  Jacky Guy; Jian Gan; Jim Selfridge; Stuart Cobb; Adrian Bird
Journal:  Science       Date:  2007-02-08       Impact factor: 47.728

7.  Open-label use of highly purified CBD (Epidiolex®) in patients with CDKL5 deficiency disorder and Aicardi, Dup15q, and Doose syndromes.

Authors:  Orrin Devinsky; Chloe Verducci; Elizabeth A Thiele; Linda C Laux; Anup D Patel; Francis Filloux; Jerzy P Szaflarski; Angus Wilfong; Gary D Clark; Yong D Park; Laurie E Seltzer; E Martina Bebin; Robert Flamini; Robert T Wechsler; Daniel Friedman
Journal:  Epilepsy Behav       Date:  2018-07-11       Impact factor: 2.937

8.  Incidence and phenotypes of childhood-onset genetic epilepsies: a prospective population-based national cohort.

Authors:  Joseph D Symonds; Sameer M Zuberi; Kirsty Stewart; Ailsa McLellan; Mary O'Regan; Stewart MacLeod; Alice Jollands; Shelagh Joss; Martin Kirkpatrick; Andreas Brunklaus; Daniela T Pilz; Jay Shetty; Liam Dorris; Ishaq Abu-Arafeh; Jamie Andrew; Philip Brink; Mary Callaghan; Jamie Cruden; Louise A Diver; Christine Findlay; Sarah Gardiner; Rosemary Grattan; Bethan Lang; Jane MacDonnell; Jean McKnight; Calum A Morrison; Lesley Nairn; Meghan M Slean; Elma Stephen; Alan Webb; Angela Vincent; Margaret Wilson
Journal:  Brain       Date:  2019-08-01       Impact factor: 13.501

Review 9.  Preclinical research in Rett syndrome: setting the foundation for translational success.

Authors:  David M Katz; Joanne E Berger-Sweeney; James H Eubanks; Monica J Justice; Jeffrey L Neul; Lucas Pozzo-Miller; Mary E Blue; Diana Christian; Jacqueline N Crawley; Maurizio Giustetto; Jacky Guy; C James Howell; Miriam Kron; Sacha B Nelson; Rodney C Samaco; Laura R Schaevitz; Coryse St Hillaire-Clarke; Juan L Young; Huda Y Zoghbi; Laura A Mamounas
Journal:  Dis Model Mech       Date:  2012-11       Impact factor: 5.758

10.  Characterisation of CDKL5 Transcript Isoforms in Human and Mouse.

Authors:  Ralph D Hector; Owen Dando; Nicoletta Landsberger; Charlotte Kilstrup-Nielsen; Peter C Kind; Mark E S Bailey; Stuart R Cobb
Journal:  PLoS One       Date:  2016-06-17       Impact factor: 3.240
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  4 in total

1.  Temporal manipulation of Cdkl5 reveals essential postdevelopmental functions and reversible CDKL5 deficiency disorder-related deficits.

Authors:  Barbara Terzic; M Felicia Davatolhagh; Yugong Ho; Sheng Tang; Yu-Ting Liu; Zijie Xia; Yue Cui; Marc V Fuccillo; Zhaolan Zhou
Journal:  J Clin Invest       Date:  2021-10-15       Impact factor: 14.808

2.  Expression of a Secretable, Cell-Penetrating CDKL5 Protein Enhances the Efficacy of Gene Therapy for CDKL5 Deficiency Disorder.

Authors:  Giorgio Medici; Marianna Tassinari; Giuseppe Galvani; Stefano Bastianini; Laura Gennaccaro; Manuela Loi; Nicola Mottolese; Sara Alvente; Chiara Berteotti; Giulia Sagona; Leonardo Lupori; Giulia Candini; Helen Rappe Baggett; Giovanna Zoccoli; Maurizio Giustetto; Alysson Muotri; Tommaso Pizzorusso; Hiroyuki Nakai; Stefania Trazzi; Elisabetta Ciani
Journal:  Neurotherapeutics       Date:  2022-09-15       Impact factor: 6.088

3.  Current neurologic treatment and emerging therapies in CDKL5 deficiency disorder.

Authors:  Heather E Olson; Carolyn I Daniels; Isabel Haviland; Timothy A Benke; Annapurna Poduri; Lindsay C Swanson; Caitlin A Greene; Anne Marie M Denny; Scott T Demarest; Elia Pestana-Knight; Xiaoming Zhang; Ahsan N Moosa; Andrea Fidell; Judith L Weisenberg; Bernhard Suter; Cary Fu; Jeffrey L Neul; Alan K Percy; Eric D Marsh
Journal:  J Neurodev Disord       Date:  2021-09-16       Impact factor: 4.025

4.  Electrophysiological biomarkers of brain function in CDKL5 deficiency disorder.

Authors:  Joni N Saby; Patrick J Mulcahey; Alexis E Zavez; Sarika U Peters; Shannon M Standridge; Lindsay C Swanson; David N Lieberman; Heather E Olson; Alexandra P Key; Alan K Percy; Jeffrey L Neul; Charles A Nelson; Timothy P L Roberts; Timothy A Benke; Eric D Marsh
Journal:  Brain Commun       Date:  2022-08-04
  4 in total

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