Literature DB >> 36247910

Acetazolamide Improves Episodic Ataxia in a Patient with Non-Verbal Autism and Paroxysmal Dyskinesia Due To PRRT2 Biallelic Variants.

Loreto Martorell1,2, Alfons Macaya3,4,5, Belén Pérez-Dueñas2,6,5, Juan Darío Ortigoza-Escobar2,7,5.   

Abstract

Entities:  

Keywords:  #; PRRT2; acetazolamide; autism; case report; episodic ataxia; homozygous; paroxysmal dyskinesia

Year:  2022        PMID： 36247910      PMCID： PMC9547142          DOI： 10.1002/mdc3.13528

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


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  12 in total

1.  Deep sequencing reveals 50 novel genes for recessive cognitive disorders.

Authors:  Hossein Najmabadi; Hao Hu; Masoud Garshasbi; Tomasz Zemojtel; Seyedeh Sedigheh Abedini; Wei Chen; Masoumeh Hosseini; Farkhondeh Behjati; Stefan Haas; Payman Jamali; Agnes Zecha; Marzieh Mohseni; Lucia Püttmann; Leyla Nouri Vahid; Corinna Jensen; Lia Abbasi Moheb; Melanie Bienek; Farzaneh Larti; Ines Mueller; Robert Weissmann; Hossein Darvish; Klaus Wrogemann; Valeh Hadavi; Bettina Lipkowitz; Sahar Esmaeeli-Nieh; Dagmar Wieczorek; Roxana Kariminejad; Saghar Ghasemi Firouzabadi; Monika Cohen; Zohreh Fattahi; Imma Rost; Faezeh Mojahedi; Christoph Hertzberg; Atefeh Dehghan; Anna Rajab; Mohammad Javad Soltani Banavandi; Julia Hoffer; Masoumeh Falah; Luciana Musante; Vera Kalscheuer; Reinhard Ullmann; Andreas Walter Kuss; Andreas Tzschach; Kimia Kahrizi; H Hilger Ropers
Journal:  Nature       Date:  2011-09-21       Impact factor: 49.962

2.  Acute-Onset Ataxia and Transient Cerebellar Diffusion Restriction Associated with a PRRT2 Mutation.

Authors:  Nicolas Legris; Olivier Chassin; Ghaidaa Nasser; Florence Riant; Elisabeth Tournier-Lasserve; Christian Denier
Journal:  J Stroke Cerebrovasc Dis       Date:  2018-11-28       Impact factor: 2.136

3.  Severe phenotypic spectrum of biallelic mutations in PRRT2 gene.

Authors:  Marion Delcourt; Florence Riant; Josette Mancini; Mathieu Milh; Vincent Navarro; Emmanuel Roze; Véronique Humbertclaude; Christian Korff; Vincent Des Portes; Pierre Szepetowski; Diane Doummar; Bernard Echenne; Samuel Quintin; Nicolas Leboucq; Rabbind Singh Amrathlal; Jacques Rochette; Agathe Roubertie
Journal:  J Neurol Neurosurg Psychiatry       Date:  2015-01-16       Impact factor: 10.154

4.  Hemiplegic Migraine Associated With PRRT2 Variations: A Clinical and Genetic Study.

Authors:  Florence Riant; Caroline Roos; Agathe Roubertie; Cécile Barbance; Jessica Hadjadj; Stéphane Auvin; Guillaume Baille; Marion Beltramone; Cécile Boulanger; Alice Cahn; Florina Cata; Emmanuel Cheuret; Jean-Christophe Cuvellier; Antoine Defo; Genevieve Demarquay; Anne Donnet; Nicolas Gaillard; Evelyne Massardier; Nathalie Guy; Sylvie Lamoureux; Laurence Le Moigno; Christian Lucas; Diana Ratiu; Sylvain Redon; Caroline Rey; Christel Thauvin; François Viallet; Elisabeth Tournier-Lasserve; Anne Ducros
Journal:  Neurology       Date:  2021-10-14       Impact factor: 9.910

5.  Homozygous c.649dupC mutation in PRRT2 worsens the BFIS/PKD phenotype with mental retardation, episodic ataxia, and absences.

Authors:  Angelo Labate; Patrizia Tarantino; Maurizio Viri; Laura Mumoli; Monica Gagliardi; Antonino Romeo; Federico Zara; Grazia Annesi; Antonio Gambardella
Journal:  Epilepsia       Date:  2012-11-05       Impact factor: 5.864

6.  Paroxysmal kinesigenic dyskinesia: Clinical and genetic analyses of 110 patients.

Authors:  Xiao-Jun Huang; Tian Wang; Jun-Ling Wang; Xiao-Li Liu; Xiang-Qian Che; Jin Li; Xiao Mao; Mei Zhang; Guang-Hui Bi; Li Wu; Yu Zhang; Jing-Yi Wang; Jun-Yi Shen; Bei-Sha Tang; Li Cao; Sheng-Di Chen
Journal:  Neurology       Date:  2015-10-07       Impact factor: 9.910

7.  RHOBTB2 Mutations Expand the Phenotypic Spectrum of Alternating Hemiplegia of Childhood.

Authors:  Sara Zagaglia; Dora Steel; S Krithika; Laura Hernandez-Hernandez; Helena Martins Custodio; Kathleen M Gorman; Aikaterini Vezyroglou; Rikke S Møller; Mary D King; Trine Bjørg Hammer; Robert Spaull; Walid Fazeli; Tobias Bartolomaeus; Diane Doummar; Boris Keren; Cyril Mignot; Nathalie Bednarek; J Helen Cross; Andrew A Mallick; Alba Sanchis-Juan; Anna Basu; F Lucy Raymond; Bryan J Lynch; Anirban Majumdar; Hannah Stamberger; Sarah Weckhuysen; Sanjay M Sisodiya; Manju A Kurian
Journal:  Neurology       Date:  2021-01-27       Impact factor: 9.910

8.  PRRT2 gene mutations: from paroxysmal dyskinesia to episodic ataxia and hemiplegic migraine.

Authors:  Alice R Gardiner; Kailash P Bhatia; Maria Stamelou; Russell C Dale; Manju A Kurian; Susanne A Schneider; G M Wali; Tim Counihan; Anthony H Schapira; Sian D Spacey; Enza-Maria Valente; Laura Silveira-Moriyama; Hélio A G Teive; Salmo Raskin; Josemir W Sander; Andrew Lees; Tom Warner; Dimitri M Kullmann; Nicholas W Wood; Michael Hanna; Henry Houlden
Journal:  Neurology       Date:  2012-10-17       Impact factor: 9.910

9.  Age-dependent neurological phenotypes in a mouse model of PRRT2-related diseases.

Authors:  Fay Aj; McMahon T; Im C; Bair-Marshall C; Niesner Kj; Li H; Nelson A; Voglmaier Sm; Fu Y-H; Ptáček Lj
Journal:  Neurogenetics       Date:  2021-06-08       Impact factor: 2.660

10.  PRRT2 controls neuronal excitability by negatively modulating Na+ channel 1.2/1.6 activity.

Authors:  Floriana Fruscione; Pierluigi Valente; Bruno Sterlini; Alessandra Romei; Simona Baldassari; Manuela Fadda; Cosimo Prestigio; Giorgia Giansante; Jacopo Sartorelli; Pia Rossi; Alicia Rubio; Antonio Gambardella; Thierry Nieus; Vania Broccoli; Anna Fassio; Pietro Baldelli; Anna Corradi; Federico Zara; Fabio Benfenati
Journal:  Brain       Date:  2018-04-01       Impact factor: 13.501
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