Prevalência da mutação causadora da paralisia periódica hipercalêmica em equinos da raça Quarto de Milha no Brasil

by Diego José Zanzarini Delfiol, José Paes de Oliveira-Filho, Alexandre Battazza, Carla Pinheiro de Souza, Peres Ramos Badial, João Pessoa Araujo Jr, Alexandre Secorun Borges
Published 2015-05-01

Potential predictive value of SCN4A mutation status for immune checkpoint inhibitors in melanoma

by Weiyin Lin, Anqi Lin, Zhefu Li, Chaozheng Zhou, Chufeng Chen, Boliang Chen, Qingwen Lyu, Jian Zhang, Peng Luo
Published 2020-11-01

Pathological findings in a patient with non-dystrophic myotonia with a mutation of the SCN4A gene; a case report

by Takanori Hata, Takamura Nagasaka, Kishin Koh, Mai Tsuchiya, Yuta Ichinose, Haitian Nan, Kazumasa Shindo, Yoshihisa Takiyama
Published 2019-06-01

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

by Michele Cavalli, Barbara Fossati, Raffaele Vitale, Elisa Brigonzi, Vito A. G. Ricigliano, Lorenzo Saraceno, Rosanna Cardani, Carlo Pappone, Giovanni Meola, Giovanni Meola
Published 2018-05-01

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

by Chao Fu, Zhenyu Wang, Libo Wang, Jia Li, Qiuling Sang, Jiajun Chen, Ling Qi, Hui Jin, Xiaoyang Liu
Published 2018-06-01

Ion Channel Gene Mutations Causing Skeletal Muscle Disorders: Pathomechanisms and Opportunities for Therapy

by Lorenzo Maggi, Silvia Bonanno, Concetta Altamura, Jean-François Desaphy
Published 2021-06-01

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

by Jiejing Shi, Qianqian Qu, Haiyan Liu, Wenhao Cui, Yan Zhang, Haidong Lv, Zuneng Lu
Published 2019-10-01

Editorial: New Insights in Skeletal Muscle Channelopathies - A Rapidly Expanding Field

by Lorenzo Maggi, Emma Matthews, Emma Matthews, Jean-François Desaphy
Published 2020-12-01

Co-existence of Congenital Adrenal Hyperplasia and Familial Hypokalemic Periodic Paralysis due to CYP21A2 and SCN4A Pathogenic Variants

by Tuğba Kontbay, İhsan Turan
Published 2021-09-01

Caractérisation clinique et génétique des myotonies congénitales classiques et atypiques au Saguenay Lac St-Jean

by Rossignol, Elsa
Published 2010

Caractérisation clinique et génétique des myotonies congénitales classiques et atypiques au Saguenay Lac St-Jean

by Rossignol, Elsa
Published 2010

Changes of Resurgent Na⁺ Currents in the Na_v1.4 Channel Resulting from an <i>SCN4A</i> Mutation Contributing to Sodium Channel Myotonia

by Chiung-Wei Huang, Hsing-Jung Lai, Pi-Chen Lin, Ming-Jen Lee
Published 2020-04-01

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

by Lorenzo Maggi, Raffaella Brugnoni, Eleonora Canioni, Paola Tonin, Veronica Saletti, Patrizia Sola, Stefano Cotti Piccinelli, Lara Colleoni, Paola Ferrigno, Antonella Pini, Riccardo Masson, Fiore Manganelli, Daniele Lietti, Liliana Vercelli, Giulia Ricci, Claudio Bruno, Giorgio Tasca, Antonio Pizzuti, Antonio Pizzuti, Alessandro Padovani, Carlo Fusco, Elena Pegoraro, Lucia Ruggiero, Sabrina Ravaglia, Gabriele Siciliano, Lucia Morandi, Raffaele Dubbioso, Tiziana Mongini, Massimiliano Filosto, Irene Tramacere, Renato Mantegazza, Pia Bernasconi
Published 2020-07-01

Identification of genetic variations of a Chinese family with paramyotonia congenita via whole exome sequencing

by Jinxin Li, Qinghai Huang, Liang Ge, Jing Xu, Xingjuan Shi, Wei Xie, Xiang Liu, Xiangdong Liu
Published 2015-06-01

Molecular cloning of ion channels in Felis catus that are related to periodic paralyses in man: a contribution to the understanding of the genetic susceptibility to feline neck ven...

by Marlyn Zapata, Ilda S. Kunii, Rolf M. Paninka, Denise M. N. Simões, Víctor A. Castillo, Archivaldo Reche, Rui M. B. Maciel, Magnus R. Dias da Silva
Published 2014-07-01

Phylogeny and Molecular Evolution of the Voltage-gated Sodium Channel Gene scn4aa in the Electric Fish Genus Gymnotus

by Xiao, Dawn Dong-yi
Published 2014

Phylogeny and Molecular Evolution of the Voltage-gated Sodium Channel Gene scn4aa in the Electric Fish Genus Gymnotus

by Xiao, Dawn Dong-yi
Published 2014