Scn4a | List of Frontiers open access articles

Original Research

Published on 21 Jan 2022

Comprehensive Analysis to Identify the Encoded Gens of Sodium Channels as a Prognostic Biomarker in Hepatocellular Carcinoma

in Statistical Genetics and Methodology

Yan Yan
Wen He
Yonghua Chen
Qiang Li
Jiahao Pan
Yunfei Yuan
Weian Zeng
Dongtai Chen
Wei Xing

Frontiers in Genetics

doi 10.3389/fgene.2021.802067

4,035 views
7 citations

Case Report

Published on 07 Jun 2018

Familial Normokalemic Periodic Paralysis Associated With Mutation in the SCN4A p.M1592V

in Neuromuscular Disorders and Peripheral Neuropathies

Chao Fu
Zhenyu Wang
Libo Wang
Jia Li
Qiuling Sang
Jiajun Chen
Ling Qi
Hui Jin
Xiaoyang Liu

Frontiers in Neurology

doi 10.3389/fneur.2018.00430

7,861 views
8 citations

Original Research

Published on 13 Feb 2020

Myotonic Myopathy With Secondary Joint and Skeletal Anomalies From the c.2386C>G, p.L796V Mutation in SCN4A

in Neuromuscular Disorders and Peripheral Neuropathies

Nathaniel Elia
Trystan Nault
Hugh J. McMillan
Gail E. Graham
Lijia Huang
Stephen C. Cannon

Frontiers in Neurology

doi 10.3389/fneur.2020.00077

5,478 views
9 citations

Case Report

Published on 30 May 2018

Flecainide-Induced Brugada Syndrome in a Patient With Skeletal Muscle Sodium Channelopathy: A Case Report With Critical Therapeutical Implications and Review of the Literature

in Neuromuscular Disorders and Peripheral Neuropathies

Michele Cavalli
Barbara Fossati
Raffaele Vitale
Elisa Brigonzi
Vito A. G. Ricigliano
Lorenzo Saraceno
Rosanna Cardani
Carlo Pappone
Giovanni Meola

Frontiers in Neurology

doi 10.3389/fneur.2018.00385

4,950 views
17 citations

Case Report

Published on 25 Oct 2019

SCN4A p.R675Q Mutation Leading to Normokalemic Periodic Paralysis: A Family Report and Literature Review

in Neuromuscular Disorders and Peripheral Neuropathies

Jiejing Shi
Qianqian Qu
Haiyan Liu
Wenhao Cui
Yan Zhang
Haidong Lv
Zuneng Lu

Frontiers in Neurology

doi 10.3389/fneur.2019.01138

4,138 views
5 citations

Original Research

Published on 08 Jan 2026

Functional study of a novel SCN4A variant c.611C>T identified in a Japanese patient with myasthenia

in Membrane Pores, Channels, and Transporters

Natsuki Kira
Kosuke Yoshida
Satoe Takahashi
Ayami Yamanaka
Takashi Kimura
Kazuaki Homma
Masanori P. Takahashi
Tomoya Kubota

Frontiers in Biophysics

doi 10.3389/frbis.2025.1710099

708 views

Original Research

Published on 29 Jul 2020

Clinical and Molecular Spectrum of Myotonia and Periodic Paralyses Associated With Mutations in SCN4A in a Large Cohort of Italian Patients

in Neuromuscular Disorders and Peripheral Neuropathies

Lorenzo Maggi
Raffaella Brugnoni
Eleonora Canioni
Paola Tonin
Veronica Saletti
Patrizia Sola
Stefano Cotti Piccinelli
Lara Colleoni
Paola Ferrigno
Antonella Pini

Frontiers in Neurology

doi 10.3389/fneur.2020.00646

10,493 views
12 citations

Case Report

Published on 17 Jan 2023

Case report: SCN4A p.R1135H gene variant in combination with thyrotoxicosis causing hypokalemic periodic paralysis

in Neuromuscular Disorders and Peripheral Neuropathies

Zhi Zhang
Banghui Xiao

Frontiers in Neurology

doi 10.3389/fneur.2022.1078784

3,416 views
4 citations

Review

Published on 04 Oct 2021

New Challenges Resulting From the Loss of Function of Nav1.4 in Neuromuscular Diseases

in Pharmacology of Ion Channels and Channelopathies

Sophie Nicole
Philippe Lory

Frontiers in Pharmacology

doi 10.3389/fphar.2021.751095

9,915 views
16 citations

Case Report

Published on 23 Aug 2022

Case report: Sodium and chloride muscle channelopathy coexistence: A complicated phenotype and a challenging diagnosis

in Neuromuscular Disorders and Peripheral Neuropathies

Serena Pagliarani
Giovanni Meola
Melania Filareti
Giacomo Pietro Comi
Sabrina Lucchiari

Frontiers in Neurology

doi 10.3389/fneur.2022.845383

3,840 views
3 citations

Original Research

Published on 08 Mar 2022

The Clinical, Myopathological, and Genetic Analysis of 20 Patients With Non-dystrophic Myotonia

in Neuromuscular Disorders and Peripheral Neuropathies

Quanquan Wang
Zhe Zhao
Hongrui Shen
Qi Bing
Nan Li
Jing Hu

Frontiers in Neurology

doi 10.3389/fneur.2022.830707

7,796 views
11 citations

Original Research

Published on 26 Jun 2020

Genotype-Phenotype Correlations and Characterization of Medication Use in Inherited Myotonic Disorders

in Neuromuscular Disorders and Peripheral Neuropathies

Alayne P. Meyer
Jennifer Roggenbuck
Samantha LoRusso
John Kissel
Rachel M. Smith
David Kline
W. David Arnold

Frontiers in Neurology

doi 10.3389/fneur.2020.00593

6,780 views
14 citations

Original Research

Published on 26 Jan 2023

Gene panel analysis of 119 index patients with suspected periodic paralysis in Japan

in Neuromuscular Disorders and Peripheral Neuropathies

Jun-Hui Yuan
Yujiro Higuchi
Akihiro Hashiguchi
Masahiro Ando
Akiko Yoshimura
Tomonori Nakamura
Yu Hiramatsu
Yusuke Sakiyama
Hiroshi Takashima

Frontiers in Neurology

doi 10.3389/fneur.2023.1078195

4,652 views
3 citations

Case Report

Published on 26 Aug 2022

Case report: Novel SCN4A variant associated with a severe congenital myasthenic syndrome/myopathy phenotype

in Pediatric Neurology

Veronika M. Berghold
Mahmoud Koko
Riccardo Berutti
Barbara Plecko

Frontiers in Pediatrics

doi 10.3389/fped.2022.944784

5,254 views
14 citations

Review

Published on 17 Feb 2015

Cellular hyper-excitability caused by mutations that alter the activation process of voltage-gated sodium channels

in Membrane Physiology and Membrane Biophysics

Mohamed-Yassine Amarouch
Hugues Abriel

Frontiers in Physiology

doi 10.3389/fphys.2015.00045

8,496 views
15 citations

Original Research

Published on 29 Apr 2020

Sodium Channel Myotonia Due to Novel Mutations in Domain I of Nav1.4

in Neuromuscular Disorders and Peripheral Neuropathies

Serena Pagliarani
Sabrina Lucchiari
Marina Scarlato
Elisa Redaelli
Anna Modoni
Francesca Magri
Barbara Fossati
Stefano C. Previtali
Valeria A. Sansone
Marzia Lecchi

Frontiers in Neurology

doi 10.3389/fneur.2020.00255

6,337 views
6 citations

Articles

Comprehensive Analysis to Identify the Encoded Gens of Sodium Channels as a Prognostic Biomarker in Hepatocellular Carcinoma

Familial Normokalemic Periodic Paralysis Associated With Mutation in the SCN4A p.M1592V

Myotonic Myopathy With Secondary Joint and Skeletal Anomalies From the c.2386C>G, p.L796V Mutation in SCN4A

Flecainide-Induced Brugada Syndrome in a Patient With Skeletal Muscle Sodium Channelopathy: A Case Report With Critical Therapeutical Implications and Review of the Literature

SCN4A p.R675Q Mutation Leading to Normokalemic Periodic Paralysis: A Family Report and Literature Review

Functional study of a novel SCN4A variant c.611C>T identified in a Japanese patient with myasthenia

Clinical and Molecular Spectrum of Myotonia and Periodic Paralyses Associated With Mutations in SCN4A in a Large Cohort of Italian Patients

Case report: SCN4A p.R1135H gene variant in combination with thyrotoxicosis causing hypokalemic periodic paralysis

New Challenges Resulting From the Loss of Function of Nav1.4 in Neuromuscular Diseases

Case report: Sodium and chloride muscle channelopathy coexistence: A complicated phenotype and a challenging diagnosis

The Clinical, Myopathological, and Genetic Analysis of 20 Patients With Non-dystrophic Myotonia

Genotype-Phenotype Correlations and Characterization of Medication Use in Inherited Myotonic Disorders

Gene panel analysis of 119 index patients with suspected periodic paralysis in Japan

Case report: Novel SCN4A variant associated with a severe congenital myasthenic syndrome/myopathy phenotype

Cellular hyper-excitability caused by mutations that alter the activation process of voltage-gated sodium channels

Sodium Channel Myotonia Due to Novel Mutations in Domain I of Nav1.4