Literature DB >> 29478596

Periodic paralysis.

Doreen Fialho1, Robert C Griggs2, Emma Matthews1.   

Abstract

The periodic paralyses are a group of skeletal muscle channelopathies characterizeed by intermittent attacks of muscle weakness often associated with altered serum potassium levels. The underlying genetic defects include mutations in genes encoding the skeletal muscle calcium channel Cav1.1, sodium channel Nav1.4, and potassium channels Kir2.1, Kir3.4, and possibly Kir2.6. Our increasing knowledge of how mutant channels affect muscle excitability has resulted in better understanding of many clinical phenomena which have been known for decades and sheds light on some of the factors that trigger attacks. Insights into the pathophysiology are also leading to new therapeutic approaches.
Copyright © 2018 Elsevier B.V. All rights reserved.

Entities:  

Keywords:  Andersen–Tawil syndrome; CACNA1S; KCNJ2; SCN4A; gating pore leak; hyperkalemic periodic paralysis; hypokalemic periodic paralysis; muscle excitability; paradoxic depolarization; thyrotoxic periodic paralysis

Mesh:

Substances:

Year:  2018        PMID: 29478596     DOI: 10.1016/B978-0-444-64076-5.00032-6

Source DB:  PubMed          Journal:  Handb Clin Neurol        ISSN: 0072-9752


  12 in total

Review 1.  Central Role of Subthreshold Currents in Myotonia.

Authors:  Sabrina Metzger; Chris Dupont; Andrew A Voss; Mark M Rich
Journal:  Ann Neurol       Date:  2019-11-27       Impact factor: 10.422

Review 2.  Regulation of muscle potassium: exercise performance, fatigue and health implications.

Authors:  Michael I Lindinger; Simeon P Cairns
Journal:  Eur J Appl Physiol       Date:  2021-01-04       Impact factor: 3.078

Review 3.  Skeletal Muscle Channelopathies.

Authors:  Lauren Phillips; Jaya R Trivedi
Journal:  Neurotherapeutics       Date:  2018-10       Impact factor: 7.620

4.  Targeted Therapies for Skeletal Muscle Ion Channelopathies: Systematic Review and Steps Towards Precision Medicine.

Authors:  Jean-François Desaphy; Concetta Altamura; Savine Vicart; Bertrand Fontaine
Journal:  J Neuromuscul Dis       Date:  2021

5.  Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Authors:  Virginie Laugel-Haushalter; Supawich Morkmued; Corinne Stoetzel; Véronique Geoffroy; Jean Muller; Anne Boland; Jean-François Deleuze; Kirsley Chennen; Waranuch Pitiphat; Hélène Dollfus; Karen Niederreither; Agnès Bloch-Zupan; Patimaporn Pungchanchaikul
Journal:  Front Physiol       Date:  2018-09-26       Impact factor: 4.566

6.  Myotonia congenita and periodic hypokalemia paralysis in a consanguineous marriage pedigree: Coexistence of a novel CLCN1 mutation and an SCN4A mutation.

Authors:  Chenyu Zhao; DongFang Tang; Hui Huang; Haiyan Tang; Yuan Yang; Min Yang; Yingying Luo; Huai Tao; Jianguang Tang; Xi Zhou; Xiaoliu Shi
Journal:  PLoS One       Date:  2020-05-14       Impact factor: 3.240

Review 7.  Disease Associated Mutations in KIR Proteins Linked to Aberrant Inward Rectifier Channel Trafficking.

Authors:  Eva-Maria Zangerl-Plessl; Muge Qile; Meye Bloothooft; Anna Stary-Weinzinger; Marcel A G van der Heyden
Journal:  Biomolecules       Date:  2019-10-25

8.  Thyrotoxic periodic paralysis: A retrospective, observational study from India.

Authors:  Vishesh Verma; Yogesh Kumar; Narendra Kotwal; Vimal Upreti; K V S Hari Kumar; Yashpal Singh; Anil S Menon
Journal:  Indian J Med Res       Date:  2020-01       Impact factor: 2.375

9.  The clinical and genetic heterogeneity analysis of five families with primary periodic paralysis.

Authors:  Quanquan Wang; Zhe Zhao; Hongrui Shen; Qi Bing; Nan Li; Jing Hu
Journal:  Channels (Austin)       Date:  2021-12       Impact factor: 2.581

Review 10.  Inherited Neuromuscular Disorders: Which Role for Serum Biomarkers?

Authors:  Antonino Lupica; Vincenzo Di Stefano; Andrea Gagliardo; Salvatore Iacono; Antonia Pignolo; Salvatore Ferlisi; Angelo Torrente; Sonia Pagano; Massimo Gangitano; Filippo Brighina
Journal:  Brain Sci       Date:  2021-03-21
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