Literature DB >> 34853807

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

Pavlína Danhofer1, Michael Zech2,3, Zdenka Bálintová1, Marek Baláž4, Robert Jech5, Hana Ošlejšková1.   

Abstract

Entities:  

Keywords:  dystonia, biballism, epilepsy, neurosurgery, next‐generation sequencing

Year:  2021        PMID： 34853807      PMCID： PMC8607975          DOI： 10.1002/mdc3.13118

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


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

Authors:  Michaela Waak; Shekeeb S Mohammad; David Coman; Kate Sinclair; Lisa Copeland; Peter Silburn; Terry Coyne; Jim McGill; Mary O'Regan; Richard Selway; Joseph Symonds; Padraic Grattan-Smith; Jean-Pierre Lin; Russell C Dale; Stephen Malone
Journal:  J Neurol Neurosurg Psychiatry       Date:  2017-07-01       Impact factor: 10.154

3.  Clinical Course of Six Children With GNAO1 Mutations Causing a Severe and Distinctive Movement Disorder.

Authors:  Amitha L Ananth; Amy Robichaux-Viehoever; Young-Min Kim; Andrea Hanson-Kahn; Rachel Cox; Gregory M Enns; Jonathan Strober; Marcia Willing; Bradley L Schlaggar; Yvonne W Wu; Jonathan A Bernstein
Journal:  Pediatr Neurol       Date:  2016-03-17       Impact factor: 3.372

Review 4.  Status dystonicus: a practice guide.

Authors:  Nicholas M Allen; Jean-Pierre Lin; Tim Lynch; Mary D King
Journal:  Dev Med Child Neurol       Date:  2013-12-04       Impact factor: 5.449

5.  Deep brain stimulation is effective in pediatric patients with GNAO1 associated severe hyperkinesia.

Authors:  Anne Koy; Sebahattin Cirak; Victoria Gonzalez; Kerstin Becker; Thomas Roujeau; Christophe Milesi; Julien Baleine; Gilles Cambonie; Alain Boularan; Frederic Greco; Pierre-Francois Perrigault; Claude Cances; Nathalie Dorison; Diane Doummar; Agathe Roubertie; Christophe Beroud; Friederike Körber; Burkhard Stüve; Stephan Waltz; Cyril Mignot; Caroline Nava; Mohammad Maarouf; Philippe Coubes; Laura Cif
Journal:  J Neurol Sci       Date:  2018-05-22       Impact factor: 3.181
  5 in total
  2 in total

1.  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

2.  DBS emergency surgery for treatment of dystonic storm associated with rhabdomyolysis and acute colitis in DYT-GNAO1.

Authors:  Hind Chaib; Jan-Christoph Schoene-Bake; Assel Saryyeva; Thomas Jack; Hans Hartmann; Joachim K Krauss
Journal:  Childs Nerv Syst       Date:  2022-06-20       Impact factor: 1.532
  2 in total

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