Results 1 to 10 of about 2,332 (142)

Novel compound heterozygous mutations in SCN4A as a potential genetic cause contributing to myopathic manifestations: A case report and literature review

Heliyon
Background: SCN4A mutations account for a diverse array of clinical manifestations, encompassing periodic paralysis, myotonia, and newly recognized symptoms like classical congenital myopathy or congenital myasthenic syndromes.
Joonhong Park
exaly   +4 more sources

Clinical, electromyographic, and biophysical characterization of the rare Nav1.4 channel mutation SCN4A L1436P [PDF]

Frontiers in Physiology
IntroductionOur aims were to provide an integrated clinical and biophysical characterization of the rare variant NM_000334.4(SCN4A) c.4307T>C (p.Leu1436Pro; L1436P), affecting the skeletal muscle sodium channel Nav1.4, and to compare its functional ...
Bernard Lakaye
exaly   +4 more sources

Hypokalemic Periodic Paralysis in a Young Woman With Mast Cell Activation Syndrome: A Case Report of an Atypical Presentation Associated With an Ultra-Rare CACNA1S Variant. [PDF]

Clin Case Rep
ABSTRACT Hypokalemic periodic paralysis (hKPP) is a rare neuromuscular channelopathy characterized by transient episodes of muscle weakness or paralysis associated with low serum potassium levels. It has been most commonly linked to autosomal dominant mutations in ion channel genes, specifically CACNA1S and SCN4A, which impair skeletal muscle ...
Moradi A, Aboutaleb Y, Noreen S, Sahyouni A, Sharma H, Oyesanmi O, Kahane IM, Lin Y, Toka HR.   +8 more
europepmc   +2 more sources

Inclusion-Body Myopathy with Paget Disease of the Bone and Frontotemporal Dementia (IBMPFD) with SCN4A Mutation: Modifying Factor or Not? [PDF]

Diagnostics
A 56-year-old man with a family history of myopathy developed generalized muscle weakness at age 45. At age 52, he was diagnosed with inclusion-body myopathy with Paget disease of bone and frontotemporal dementia (IBMPFD), confirmed by muscle pathology ...
Sekai Tsujimoto, Koji Hayashi, Mamiko Sato, Toshio Hamada, Asuka Suzuki, Yuka Nakaya, Toyoaki Miura, Ichizo Nishino, Wakako Yoshioka, Yasutaka Kobayashi   +9 more
doaj   +2 more sources

Clinical features and advances in the genetics of periodic paralysis [PDF]

PeerJ
Periodic paralysis (PP) is a group of ion channel diseases with incomplete autosomal dominant inheritance, except in sporadic patients. Ion channel gene mutations cause transient abnormalities in skeletal muscle excitability and muscle weakness ...
Man Luo, Beibei Liu, Junjie Xu, Danyang Meng   +3 more
doaj   +3 more sources

Hypokalemic Periodic Paralysis Associated With a Rare <i>CACNA1S</i> Variant (p.Leu1243Val): Expanding the Mutational Spectrum. [PDF]

Case Rep Genet
Background Hypokalemic periodic paralysis (HypoPP) is a rare skeletal muscle channelopathy, most often caused by mutations in CACNA1S or SCN4A. Most pathogenic CACNA1S mutations affect arginine residues in S4 voltage‐sensor domains, but other variants remain poorly understood.
Nader MA.
europepmc   +2 more sources

Pragmatic Phenotype-Electrophysiology-Genomics Integration in Pediatric Congenital Myasthenic Syndromes: Insights From 36 Patients in a Single-Center Study in China. [PDF]

CNS Neurosci Ther
In 36 Chinese pediatric CMS patients, integrated phenotype, RNS, and genomic assessment revealed marked genetic heterogeneity across 17 CMS‐associated genes and frequent VUS‐related uncertainty. Genotype‐informed therapy improved MG‐ADL scores, while CHAT‐CMS identified a high‐risk subgroup for early respiratory failure and mortality.
Cui L, Ma K, Fu X, Ge L, Jia B, Ma W, Yang L, Liu Z, Lv J, Xu W, Wang L, Zhao G, Li J, Wu J, Wang Q, Ding C, Ren X, Shen X, Xiong H.   +18 more
europepmc   +2 more sources

Association between voltage-gated sodium channel gene polymorphisms and chronic oxaliplatin-induced peripheral neuropathy in Japanese patients with colorectal cancer [PDF]

Journal of Pharmaceutical Health Care and Sciences
Background Polymorphisms in voltage-gated sodium channel (SCN) genes have been implicated in oxaliplatin-induced peripheral neuropathy (OXAIPN). However, their association with chronic OXAIPN in Japanese patients remains unclear.
Masato Matsuura, Ayumu Nagamine, Takashi Masuno, Akira Tabei, Teruko Nasaka, Hiromi Nishiba, Maho Koike, Yuta Takahashi, Kyoko Obayashi   +8 more
doaj   +2 more sources

Mitochondrial dysfunction in hyperkalemic periodic paralysis: A case report and literature review [PDF]

BMC Pediatrics
Background Hyperkalemic periodic paralysis is a rare autosomal dominant disorder of sodium channels in skeletal muscles caused by pathogenic variants in the SCN4A gene.
Fady G. Mikhael, Aya S. Yatim, Riyad El-Khoury, Pascale E. Karam   +3 more
doaj   +2 more sources

Efficacy of Retigabine in Treating Weakness in a Mouse Model of Hypokalemic Periodic Paralysis. [PDF]

Muscle Nerve
ABSTRACT Introduction/Aims Hypokalemic periodic paralysis (HypoKPP) is an ion channelopathy causing episodic skeletal muscle weakness triggered by hypokalemia. Reduced inward rectifier K+ (Kir) channel activity contributes to membrane depolarization and paralysis, suggesting that pharmacologic activation of muscle K+ channels may restore excitability ...
Denman K, Rich MM.
europepmc   +2 more sources