Semaglutide reverses the chronic myopathy of hyperkalemic periodic paralysis: a case report. [PDF]
BMC NephrolBrand K, Landry D, Mulhern J, Braden G.
europepmc +1 more source
Rhabdomyolysis: a narrative review. [PDF]
Arq NeuropsiquiatrTengan CH +6 more
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ARumenamides as Multitarget Ion Channel Modulators: Insights from Fenestration-Focused Docking, ADMET Profiling, and Molecular Dynamics. [PDF]
Int J Mol SciAbdelsayed M, Boulaamane Y.
europepmc +1 more source
Clinical and Genetic Reassessment in Patients With Clinically Diagnosed Hereditary Polyneuropathy. [PDF]
Eur J NeurolKodal LS, Duno M, Dysgaard T.
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Aberrant skeletal muscle morphogenesis and myofiber differentiation characterize equine myotonic dystrophy. [PDF]
PLoS OneValberg SJ +7 more
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In tandem analysis of CLCN1 and SCN4A greatly enhances mutation detection in families with non-dystrophic myotonia [PDF]
European Journal of Human Genetics, 2008 Contains fulltext : 69798.pdf (Publisher’s version ) (Closed access)Non-dystrophic myotonias (NDMs) are caused by mutations in CLCN1 or SCN4A.
Baziel van Engelen +2 more
exaly +2 more sources
Novel mutations in human and mouse SCN4A implicate AMPK in myotonia and periodic paralysis [PDF]
Brain, 2014 Mutations in the skeletal muscle channel (SCN4A), encoding the Nav1.4 voltage-gated sodium channel, are causative of a variety of muscle channelopathies, including non-dystrophic myotonias and periodic paralysis. The effects of many of these mutations on
Glenda Lassi +2 more
exaly +3 more sources
A novel missense variant of SCN4A co-segregates with congenital essential tremor in a consanguineous Kurdish family [PDF]
American Journal of Medical Genetics, Part A, 2022 Essential tremor (ET) is a neurological disorder characterized by bilateral and symmetric postural, isometric, and kinetic tremors of forelimbs produced during voluntary movements. To date, only a single SCN4A variant has been suggested to cause ET.
Hans-Josef Feistritzer +2 more
exaly +2 more sources
Coexistence of CLCN1 and SCN4A mutations in one family suffering from myotonia
Neurogenetics, 2017 Non-dystrophic myotonias are characterized by clinical overlap making it challenging to establish genotype-phenotype correlations. We report clinical and electrophysiological findings in a girl and her father concomitantly harbouring single heterozygous ...
Concetta Altamura +2 more
exaly +3 more sources
SCN4A mutation as modifying factor of Myotonic Dystrophy Type 2 phenotype [PDF]
Neuromuscular Disorders, 2015 In myotonic dystrophy type 2 (DM2), an association has been reported between early and severe myotonia and recessive chloride channel (CLCN1) mutations. No DM2 cases have been described with sodium channel gene (SCN4A) mutations. The aim is to describe a
Giovanni Meola +2 more
exaly +2 more sources