Literature DB >> 36118517

Fever-Induced and Early Morning Paroxysmal Dyskinesia in a Man With GNB1 Encephalopathy.

Serena Galosi1, Luca Pollini1, Francesca Nardecchia1, Elena Cellini2, Renzo Guerrini2, Vincenzo Leuzzi1.   

Abstract

Entities:  

Keywords:  ADCY5; GNAO1; GNB1; G‐proteins; cAMP signaling; paroxysmal movement disorders

Year:  2022        PMID： 36118517      PMCID： PMC9464994          DOI： 10.1002/mdc3.13525

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


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  9 in total

1.  ADCY5 mutation carriers display pleiotropic paroxysmal day and nighttime dyskinesias.

Authors:  Jennifer R Friedman; Aurélie Méneret; Dong-Hui Chen; Oriane Trouillard; Marie Vidailhet; Wendy H Raskind; Emmanuel Roze
Journal:  Mov Disord       Date:  2015-12-21       Impact factor: 10.338

2.  Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures.

Authors:  Slavé Petrovski; Sébastien Küry; Candace T Myers; Kwame Anyane-Yeboa; Benjamin Cogné; Martin Bialer; Fan Xia; Parisa Hemati; James Riviello; Michele Mehaffey; Thomas Besnard; Emily Becraft; Alexandrea Wadley; Anya Revah Politi; Sophie Colombo; Xiaolin Zhu; Zhong Ren; Ian Andrews; Tracy Dudding-Byth; Amy L Schneider; Geoffrey Wallace; Aaron B I Rosen; Susan Schelley; Gregory M Enns; Pierre Corre; Joline Dalton; Sandra Mercier; Xénia Latypova; Sébastien Schmitt; Edwin Guzman; Christine Moore; Louise Bier; Erin L Heinzen; Peter Karachunski; Natasha Shur; Theresa Grebe; Alice Basinger; Joanne M Nguyen; Stéphane Bézieau; Klaas Wierenga; Jonathan A Bernstein; Ingrid E Scheffer; Jill A Rosenfeld; Heather C Mefford; Bertrand Isidor; David B Goldstein
Journal:  Am J Hum Genet       Date:  2016-04-21       Impact factor: 11.025

3.  Myoclonus-dystonia caused by GNB1 mutation responsive to deep brain stimulation.

Authors:  Hannah F Jones; Hugo Morales-Briceño; Katy Barwick; Jennifer Lewis; Alba Sanchis-Juan; F Lucy Raymond; Kirsty Stewart; Mary-Clare Waugh; Neil Mahant; Manju A Kurian; Russell C Dale; Shekeeb S Mohammad
Journal:  Mov Disord       Date:  2019-04-29       Impact factor: 10.338

4.  A PDE10A de novo mutation causes childhood-onset chorea with diurnal fluctuations.

Authors:  Silvia Esposito; Miryam Carecchio; Davide Tonduti; Veronica Saletti; Celeste Panteghini; Luisa Chiapparini; Giovanna Zorzi; Chiara Pantaleoni; Barbara Garavaglia; Dimitri Krainc; Steven J Lubbe; Nardo Nardocci; Niccolò E Mencacci
Journal:  Mov Disord       Date:  2017-09-26       Impact factor: 10.338

5.  Sleep in ADCY5-Related Dyskinesia: Prolonged Awakenings Caused by Abnormal Movements.

Authors:  Aurélie Méneret; Emmanuel Roze; Jean-Baptiste Maranci; Pauline Dodet; Diane Doummar; Florence Riant; Christine Tranchant; Valérie Fraix; Mathieu Anheim; Asya Ekmen; Eavan McGovern; Marie Vidailhet; Isabelle Arnulf; Smaranda Leu-Semenescu
Journal:  J Clin Sleep Med       Date:  2019-07-15       Impact factor: 4.062

6.  Gαo is a major determinant of cAMP signaling in the pathophysiology of movement disorders.

Authors:  Brian S Muntean; Ikuo Masuho; Maria Dao; Laurie P Sutton; Stefano Zucca; Hideki Iwamoto; Dipak N Patil; Dandan Wang; Lutz Birnbaumer; Randy D Blakely; Brock Grill; Kirill A Martemyanov
Journal:  Cell Rep       Date:  2021-02-02       Impact factor: 9.423

7.  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

8.  Novel GNB1 missense mutation in a patient with generalized dystonia, hypotonia, and intellectual disability.

Authors:  Sofia Steinrücke; Katja Lohmann; Aloysius Domingo; Arndt Rolfs; Tobias Bäumer; Juliane Spiegler; Corinna Hartmann; Alexander Münchau
Journal:  Neurol Genet       Date:  2016-09-13

9.  Biallelic PDE2A variants: a new cause of syndromic paroxysmal dyskinesia.

Authors:  Diane Doummar; Christel Dentel; Romane Lyautey; Julia Metreau; Boris Keren; Nathalie Drouot; Ludivine Malherbe; Viviane Bouilleret; Jérémie Courraud; Maria Paola Valenti-Hirsch; Lorella Minotti; Blandine Dozieres-Puyravel; Séverine Bär; Julia Scholly; Elise Schaefer; Caroline Nava; Thomas Wirth; Hala Nasser; Marie de Salins; Anne de Saint Martin; Marie Thérèse Abi Warde; Philippe Kahane; Edouard Hirsch; Mathieu Anheim; Sylvie Friant; Jamel Chelly; Cyril Mignot; Gabrielle Rudolf
Journal:  Eur J Hum Genet       Date:  2020-05-28       Impact factor: 4.246
  9 in total

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