Literature DB >> 28668776

GNAO1-related movement disorder with life-threatening exacerbations: movement phenomenology and response to DBS.

Michaela Waak1,2, Shekeeb S Mohammad3,4,5, David Coman1,2,6, Kate Sinclair1,2, Lisa Copeland1,2, Peter Silburn7, Terry Coyne7, Jim McGill1, Mary O'Regan8,9, Richard Selway10,11, Joseph Symonds8,9, Padraic Grattan-Smith3, Jean-Pierre Lin10,11, Russell C Dale4, Stephen Malone1.   

Abstract

Entities:  

Keywords:  Chorea; DBS; Dyskinetic Cerebral Palsy; GNAO1; Hyperkinetic

Mesh：

Substances：

Year:  2017        PMID： 28668776     DOI： 10.1136/jnnp-2017-315653

Source DB:  PubMed          Journal:  J Neurol Neurosurg Psychiatry        ISSN： 0022-3050            Impact factor:   10.154


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  15 in total

1.  GNAO1 mutation presenting as dyskinetic cerebral palsy.

Authors:  Maria João Malaquias; Isabel Fineza; Leal Loureiro; Luís Cardoso; Isabel Alonso; Marina Magalhães
Journal:  Neurol Sci       Date:  2019-06-12       Impact factor: 3.307

Review 2.  Principles of Medical and Surgical Treatment of Cerebral Palsy.

Authors:  Eric M Chin; Hilary E Gwynn; Shenandoah Robinson; Alexander H Hoon
Journal:  Neurol Clin       Date:  2020-05       Impact factor: 3.806

3.  Long-term effect of subthalamic and pallidal deep brain stimulation for status dystonicus in children with methylmalonic acidemia and GNAO1 mutation.

Authors:  Alberto Benato; Miryam Carecchio; Alberto Burlina; Francesco Paoloni; Stefano Sartori; Margherita Nosadini; Domenico d'Avella; Andrea Landi; Angelo Antonini
Journal:  J Neural Transm (Vienna)       Date:  2019-05-10       Impact factor: 3.575

4.  Brittle Biballism-Dystonia in a Pediatric Patient with GNAO1 Mutation Managed Using Pallidal Deep Brain Stimulation.

Authors:  Pavlína Danhofer; Michael Zech; Zdenka Bálintová; Marek Baláž; Robert Jech; Hana Ošlejšková
Journal:  Mov Disord Clin Pract       Date:  2021-01-04

5.  Deep brain stimulation in a young child with GNAO1 mutation - Feasible and helpful.

Authors:  Eva Lai-Wah Fung; Chung-Yin Mo; Sharon Tsui-Hang Fung; Anne Yin-Yan Chan; Ka-Yee Lau; Emily Kit-Ying Chan; David Yuen-Chung Chan; Xian-Lun Zhu; Danny Tat-Ming Chan; Wai-Sang Poon
Journal:  Surg Neurol Int       Date:  2022-07-01

Review 6.  Emerging Monogenic Complex Hyperkinetic Disorders.

Authors:  Miryam Carecchio; Niccolò E Mencacci
Journal:  Curr Neurol Neurosci Rep       Date:  2017-10-30       Impact factor: 5.081

Review 7.  Postsynaptic movement disorders: clinical phenotypes, genotypes, and disease mechanisms.

Authors:  Lucia Abela; Manju A Kurian
Journal:  J Inherit Metab Dis       Date:  2018-06-13       Impact factor: 4.982

8.  Spectrum of movement disorders in GNAO1 encephalopathy: in-depth phenotyping and case-by-case analysis.

Authors:  Soo Yeon Kim; YoungKyu Shim; Young Joon Ko; Soojin Park; Se Song Jang; Byung Chan Lim; Ki Joong Kim; Jong-Hee Chae
Journal:  Orphanet J Rare Dis       Date:  2020-12-09       Impact factor: 4.123

9.  KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation.

Authors:  Laura Cif; Diane Demailly; Jean-Pierre Lin; Katy E Barwick; Mario Sa; Lucia Abela; Sony Malhotra; Wui K Chong; Dora Steel; Alba Sanchis-Juan; Adeline Ngoh; Natalie Trump; Esther Meyer; Xavier Vasques; Julia Rankin; Meredith W Allain; Carolyn D Applegate; Sanaz Attaripour Isfahani; Julien Baleine; Bettina Balint; Jennifer A Bassetti; Emma L Baple; Kailash P Bhatia; Catherine Blanchet; Lydie Burglen; Gilles Cambonie; Emilie Chan Seng; Sandra Chantot Bastaraud; Fabienne Cyprien; Christine Coubes; Vincent d'Hardemare; Asif Doja; Nathalie Dorison; Diane Doummar; Marisela E Dy-Hollins; Ellyn Farrelly; David R Fitzpatrick; Conor Fearon; Elizabeth L Fieg; Brent L Fogel; Eva B Forman; Rachel G Fox; William A Gahl; Serena Galosi; Victoria Gonzalez; Tracey D Graves; Allison Gregory; Mark Hallett; Harutomo Hasegawa; Susan J Hayflick; Ada Hamosh; Marie Hully; Sandra Jansen; Suh Young Jeong; Joel B Krier; Sidney Krystal; Kishore R Kumar; Chloé Laurencin; Hane Lee; Gaetan Lesca; Laurence Lion François; Timothy Lynch; Neil Mahant; Julian A Martinez-Agosto; Christophe Milesi; Kelly A Mills; Michel Mondain; Hugo Morales-Briceno; John R Ostergaard; Swasti Pal; Juan C Pallais; Frédérique Pavillard; Pierre-Francois Perrigault; Andrea K Petersen; Gustavo Polo; Gaetan Poulen; Tuula Rinne; Thomas Roujeau; Caleb Rogers; Agathe Roubertie; Michelle Sahagian; Elise Schaefer; Laila Selim; Richard Selway; Nutan Sharma; Rebecca Signer; Ariane G Soldatos; David A Stevenson; Fiona Stewart; Michel Tchan; Ishwar C Verma; Bert B A de Vries; Jenny L Wilson; Derek A Wong; Raghda Zaitoun; Dolly Zhen; Anna Znaczko; Russell C Dale; Claudio M de Gusmão; Jennifer Friedman; Victor S C Fung; Mary D King; Shekeeb S Mohammad; Luis Rohena; Jeff L Waugh; Camilo Toro; F Lucy Raymond; Maya Topf; Philippe Coubes; Kathleen M Gorman; Manju A Kurian
Journal:  Brain       Date:  2020-12-05       Impact factor: 13.501

10.  Mouse models of GNAO1-associated movement disorder: Allele- and sex-specific differences in phenotypes.

Authors:  Huijie Feng; Casandra L Larrivee; Elena Y Demireva; Huirong Xie; Jeff R Leipprandt; Richard R Neubig
Journal:  PLoS One       Date:  2019-01-25       Impact factor: 3.240
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