Literature DB >> 27278281

Excellent response to deep brain stimulation in a young girl with GNAO1-related progressive choreoathetosis.

Sanem Yilmaz1, Tuncer Turhan2, Serdar Ceylaner3, Sarenur Gökben4, Hasan Tekgul4, Gul Serdaroglu4.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2016        PMID： 27278281     DOI： 10.1007/s00381-016-3139-6

Source DB:  PubMed          Journal:  Childs Nerv Syst        ISSN： 0256-7040            Impact factor:   1.475


× No keyword cloud information.
  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.  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

3.  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

4.  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 5.  Presynaptic signaling by heterotrimeric G-proteins.

Authors:  David A Brown; Talvinder S Sihra
Journal:  Handb Exp Pharmacol       Date:  2008
  5 in total
  13 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.  Considerations in deep brain stimulation (DBS) for pediatric secondary dystonia.

Authors:  Deki Tsering; Laura Tochen; Bennett Lavenstein; Srijaya K Reddy; Yael Granader; Robert F Keating; Chima O Oluigbo
Journal:  Childs Nerv Syst       Date:  2017-02-28       Impact factor: 1.475

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.  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

5.  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

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

7.  GNAO1 encephalopathy: Broadening the phenotype and evaluating treatment and outcome.

Authors:  Federica Rachele Danti; Serena Galosi; Marta Romani; Martino Montomoli; Keren J Carss; F Lucy Raymond; Elena Parrini; Claudia Bianchini; Tony McShane; Russell C Dale; Shekeeb S Mohammad; Ubaid Shah; Neil Mahant; Joanne Ng; Amy McTague; Rajib Samanta; Gayatri Vadlamani; Enza Maria Valente; Vincenzo Leuzzi; Manju A Kurian; Renzo Guerrini
Journal:  Neurol Genet       Date:  2017-03-21

Review 8.  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

Review 9.  Pallidal Deep Brain Stimulation for Monogenic Dystonia: The Effect of Gene on Outcome.

Authors:  Stephen Tisch; Kishore Raj Kumar
Journal:  Front Neurol       Date:  2021-01-08       Impact factor: 4.003

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
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.