Results 31 to 40 of about 2,332 (142)

Clinical Diversity of SCN4A-Mutation-Associated Skeletal Muscle Sodium Channelopathy. [PDF]

, 2009
BACKGROUND AND PURPOSE: Mutations of the skeletal muscle sodium channel gene SCN4A, which is located on chromosome 17q23-25, are associated with various neuromuscular disorders that are labeled collectively as skeletal muscle sodium channelopathy.
최영철
core   +1 more source

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

Frontiers in Neurology, 2020
The phenotypic spectrum associated with the skeletal muscle voltage-gated sodium channel gene (SCN4A) has expanded with advancements in genetic testing.
Nathaniel Elia, Nathaniel Elia, Trystan Nault, Hugh J. McMillan, Gail E. Graham, Lijia Huang, Stephen C. Cannon   +6 more
doaj   +1 more source

Identification of a mutation in a large Chinese family with atypical normokalemic periodic paralysis using whole-exome sequencing

Journal of International Medical Research, 2020
Objectives Normokalemic periodic paralysis (NormoKPP) of skeletal muscle is an autosomal dominant disorder caused by mutations in the gene encoding voltage-gated sodium channel protein type 4 subunit alpha ( SCN4A ), which leads to ion channel ...
XinYu Tan, SongNian Hu, Zongyu Xie, Hailiang Mei, Yang Liu, Liang Yin, Peng Shi, Qiming Chen, Daoqian Sang   +8 more
doaj   +1 more source

Novel SCN4A Variants Associated With Myalgic Myotonic Disorder or Paramyotonia. [PDF]

Eur J Neurol
Background: This study aimed to determine the role of five new rare SCN4A variants suspected to cause paramyotonia or myotonic disorder. Methods: Ten patients from seven families underwent clinical, neurophysiological, imaging, and muscle biopsy ...
Periviita V, Männikkö R, Jokela M, Sud R, Hanna MG, Udd B, Palmio J.   +6 more
europepmc   +2 more sources

Mutations associated with hypokalemic periodic paralysis: from hotspot regions to complete analysis of CACNA1S and SCN4A genes

, 2021
Familial periodic paralyses (PPs) are inherited disorders of skeletal muscle characterized by recurrent episodes of flaccid muscle weakness. PPs are classified as hypokalemic (HypoPP), normokalemic (NormoPP), or hyperkalemic (HyperPP) according to the ...
Eoli M., Brugnoni R., Tonin P., Pini A., Filosto M., Lauria G., Canioni E., Rossi T., Maggi L., Siciliano G., Canavese C., Mantegazza R.   +11 more
core   +2 more sources

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

Frontiers in Neurology, 2020
Introduction: Inherited myotonic disorders are genetically heterogeneous and associated with overlapping clinical features of muscle stiffness, weakness, and pain. Data on genotype-phenotype correlations are limited.
Alayne P. Meyer, Jennifer Roggenbuck, Samantha LoRusso, John Kissel, Rachel M. Smith, David Kline, W. David Arnold   +6 more
doaj   +1 more source

Coexistence of Charcot-Marie-Tooth 1A and nondystrophic myotonia due to PMP22 duplication and SCN4A pathogenic variants: a case report

BMC Neurology, 2022
Background Charcot-Marie-Tooth disease (CMT) is a genetically heterogeneous hereditary neuropathy, and CMT1A is the most common form; it is caused by a duplication of the peripheral myelin protein 22 (PMP22) gene.
Haitian Nan, Yunqing Wu, Shilei Cui, Houliang Sun, Jiawei Wang, Ying Li, Lingchao Meng, Takamura Nagasaka, Liyong Wu   +8 more
doaj   +1 more source

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

Frontiers in Pediatrics, 2022
We present a now 18-year-old female patient with a severe congenital myopathy phenotype, originally diagnosed as mitochondrial myopathy, however later revealed to constitute a SCN4A-related myopathy based on genetic testing.
Veronika M. Berghold, Mahmoud Koko, Riccardo Berutti, Riccardo Berutti, Barbara Plecko   +4 more
doaj   +1 more source

A Sodium Channel Myotonia Presenting with Intermittent Dysphagia as a Manifestation of a Rare SCN4A Variant [PDF]

, 2017
The voltage gated sodium channel SCN4A mutations account for non-dystrophic myotonia and include a heterogeneous group of conditions that include hyperkalemic periodic paralysis, paramyotonica congenita, potassium-aggravated myotonia, and hypokalemic ...
Phan, Jennifer, Benhammou, Jihane N, Parsons, William, Ghassemi, Kevin, Lee, Hane, Grody, Wayne W, Pisegna, Joseph R   +6 more
core   +1 more source

Dinucleotide repeat polymorphisms at the SCN4A locus suggest allelic heterogeneity of hyperkalemic periodic paralysis and paramyotonia congenita

, 1992
Two polymorphic dinucleotide repeats–one (dGdA) n and one (dGdT) n –have been identified at the SCN4A locus, encoding the α-subunit of the adult skeletal muscle sodium channel.
McKenna-Yasek, Diane, Brown, Robert H, Gusella, James F, Raskind, Wendy, Worthen, Hilary G, Radosavljevic, Danica, Pericak-Vance, Margaret, Bird, Thomas, Arahata, Kiichi, Haines, Jonathan L, Van den Bergh, Peter, Gilchrist, James, McClatchey, Andrea I, Trofatter, James   +13 more
core   +4 more sources