Literature DB >> 30838255

GNAO1-Associated Movement Disorder.

Radhika Dhamija1, Jonathan W Mink2,3,4,5, Binit B Shah1, Howard P Goodkin1.   

Abstract

Entities:  

Keywords:  chorea; guanine nucleotide‐binding protein; whole‐exome sequencing; α‐activating activity polypeptide O (GNAO1)

Year:  2016        PMID： 30838255      PMCID： PMC6353469          DOI： 10.1002/mdc3.12344

Source DB:  PubMed          Journal:  Mov Disord Clin Pract        ISSN： 2330-1619


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  9 in total

1.  De Novo mutations in GNAO1, encoding a Gαo subunit of heterotrimeric G proteins, cause epileptic encephalopathy.

Authors:  Kazuyuki Nakamura; Hirofumi Kodera; Tenpei Akita; Masaaki Shiina; Mitsuhiro Kato; Hideki Hoshino; Hiroshi Terashima; Hitoshi Osaka; Shinichi Nakamura; Jun Tohyama; Tatsuro Kumada; Tomonori Furukawa; Satomi Iwata; Takashi Shiihara; Masaya Kubota; Satoko Miyatake; Eriko Koshimizu; Kiyomi Nishiyama; Mitsuko Nakashima; Yoshinori Tsurusaki; Noriko Miyake; Kiyoshi Hayasaka; Kazuhiro Ogata; Atsuo Fukuda; Naomichi Matsumoto; Hirotomo Saitsu
Journal:  Am J Hum Genet       Date:  2013-08-29       Impact factor: 11.025

2.  Long-term effects of tetrabenazine in hyperkinetic movement disorders.

Authors:  J Jankovic; J Beach
Journal:  Neurology       Date:  1997-02       Impact factor: 9.910

3.  Progressive Movement Disorder in Brothers Carrying a GNAO1 Mutation Responsive to Deep Brain Stimulation.

Authors:  Neil Kulkarni; Sha Tang; Ratan Bhardwaj; Saunder Bernes; Theresa A Grebe
Journal:  J Child Neurol       Date:  2015-06-09       Impact factor: 1.987

4.  Mutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing Loss.

Authors:  Akemi J Tanaka; Megan T Cho; Francisca Millan; Jane Juusola; Kyle Retterer; Charuta Joshi; Dmitriy Niyazov; Adolfo Garnica; Edward Gratz; Matthew Deardorff; Alisha Wilkins; Xilma Ortiz-Gonzalez; Katherine Mathews; Karin Panzer; Eva Brilstra; Koen L I van Gassen; Catharina M L Volker-Touw; Ellen van Binsbergen; Nara Sobreira; Ada Hamosh; Dianalee McKnight; Kristin G Monaghan; Wendy K Chung
Journal:  Am J Hum Genet       Date:  2015-08-20       Impact factor: 11.025

5.  Physical and immunological characterization of a guanine nucleotide-binding protein purified from bovine cerebral cortex.

Authors:  R M Huff; J M Axton; E J Neer
Journal:  J Biol Chem       Date:  1985-09-05       Impact factor: 5.157

6.  Phenotypic spectrum of GNAO1 variants: epileptic encephalopathy to involuntary movements with severe developmental delay.

Authors:  Hirotomo Saitsu; Ryoko Fukai; Bruria Ben-Zeev; Yasunari Sakai; Masakazu Mimaki; Nobuhiko Okamoto; Yasuhiro Suzuki; Yukifumi Monden; Hiroshi Saito; Barak Tziperman; Michiko Torio; Satoshi Akamine; Nagahisa Takahashi; Hitoshi Osaka; Takanori Yamagata; Kazuyuki Nakamura; Yoshinori Tsurusaki; Mitsuko Nakashima; Noriko Miyake; Masaaki Shiina; Kazuhiro Ogata; Naomichi Matsumoto
Journal:  Eur J Hum Genet       Date:  2015-05-13       Impact factor: 4.246

7.  Tetrabenazine in the treatment of severe pediatric chorea.

Authors:  Anjan Chatterjee; Steven J Frucht
Journal:  Mov Disord       Date:  2003-06       Impact factor: 10.338

8.  ADCY5-related dyskinesia: Broader spectrum and genotype-phenotype correlations.

Authors:  Dong-Hui Chen; Aurélie Méneret; Jennifer R Friedman; Olena Korvatska; Alona Gad; Emily S Bonkowski; Holly A Stessman; Diane Doummar; Cyril Mignot; Mathieu Anheim; Saunder Bernes; Marie Y Davis; Nathalie Damon-Perrière; Bertrand Degos; David Grabli; Domitille Gras; Fuki M Hisama; Katherine M Mackenzie; Phillip D Swanson; Christine Tranchant; Marie Vidailhet; Steven Winesett; Oriane Trouillard; Laura M Amendola; Michael O Dorschner; Michael Weiss; Evan E Eichler; Ali Torkamani; Emmanuel Roze; Thomas D Bird; Wendy H Raskind
Journal:  Neurology       Date:  2015-11-04       Impact factor: 9.910

9.  Gain-of-function mutation in Gnao1: a murine model of epileptiform encephalopathy (EIEE17)?

Authors:  Jason M Kehrl; Kinshuk Sahaya; Hans M Dalton; Raelene A Charbeneau; Kevin T Kohut; Kristen Gilbert; Madeline C Pelz; Jack Parent; Richard R Neubig
Journal:  Mamm Genome       Date:  2014-04-05       Impact factor: 2.957
  9 in total
  7 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

2.  Both subthalamic and pallidal deep brain stimulation are effective for GNAO1-associated dystonia: three case reports and a literature review.

Authors:  Ye Liu; Qingping Zhang; Jun Wang; Jiyuan Liu; Wuyang Yang; Xuejing Yan; Yi Ouyang; Haibo Yang
Journal:  Ther Adv Neurol Disord       Date:  2022-04-29       Impact factor: 6.430

3.  Spectrum of neurodevelopmental disease associated with the GNAO1 guanosine triphosphate-binding region.

Authors:  McKenna Kelly; Meredith Park; Ivana Mihalek; Anne Rochtus; Marie Gramm; Eduardo Pérez-Palma; Erika Takle Axeen; Christina Y Hung; Heather Olson; Lindsay Swanson; Irina Anselm; Lauren C Briere; Frances A High; David A Sweetser; Saima Kayani; Molly Snyder; Sophie Calvert; Ingrid E Scheffer; Edward Yang; Jeff L Waugh; Dennis Lal; Olaf Bodamer; Annapurna Poduri
Journal:  Epilepsia       Date:  2019-01-25       Impact factor: 5.864

4.  Movement disorder in GNAO1 encephalopathy associated with gain-of-function mutations.

Authors:  Huijie Feng; Benita Sjögren; Behirda Karaj; Vincent Shaw; Aysegul Gezer; Richard R Neubig
Journal:  Neurology       Date:  2017-07-26       Impact factor: 9.910

5.  Caenorhabditis elegans provides an efficient drug screening platform for GNAO1-related disorders and highlights the potential role of caffeine in controlling dyskinesia.

Authors:  Martina Di Rocco; Serena Galosi; Enrico Lanza; Federica Tosato; Davide Caprini; Viola Folli; Jennifer Friedman; Gianfranco Bocchinfuso; Alberto Martire; Elia Di Schiavi; Vincenzo Leuzzi; Simone Martinelli
Journal:  Hum Mol Genet       Date:  2022-03-21       Impact factor: 6.150

6.  Gonadal mosaicism in GNAO1 causing neurodevelopmental disorder with involuntary movements; two additional variants.

Authors:  Zainab Al Masseri; Moeenaldeen AlSayed
Journal:  Mol Genet Metab Rep       Date:  2022-04-18

7.  Treating GNAO1 mutation-related severe movement disorders with oxcarbazepine: a case report.

Authors:  Weihao Ling; Danping Huang; Fan Yang; Zuozhen Yang; Min Liu; Qiujiao Zhu; Jing Huang; Rui Zhou; Xuqin Chen
Journal:  Transl Pediatr       Date:  2022-09
  7 in total

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