Associated Papers
Molecular genetics of skeletal muscle channelopathies.
Kubota T et al.
Journal of Human Genetics, 2025
SCN4A-related congenital myopathy in a Han Chinese patient: A case report and literature review.
Chan TY et al.
Heliyon, 2024
Gene variant effects across sodium channelopathies predict function and guide precision therapy.
Brunklaus A et al.
Brain : a Journal of Neurology, 2022
New Challenges Resulting From the Loss of Function of Nav1.4 in Neuromuscular Diseases.
Nicole S et al.
Frontiers in Pharmacology, 2021
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
Myasthenic congenital myopathy from recessive mutations at a single residue in NaV1.4.
Elia N et al.
Neurology, 2019
Structure of the human voltage-gated sodium channel Nav1.4 in complex with β1.
Pan X et al.
Science (new York, N.y.), 2018
Congenital Myasthenic Syndromes in 2018.
Engel AG
Current Neurology and Neuroscience Reports, 2018
Dysfunction of NaV1.4, a skeletal muscle voltage-gated sodium channel, in sudden infant death syndrome: a case-control study.
Männikkö R et al.
Lancet (london, England), 2018
Genetic basis and phenotypic features of congenital myasthenic syndromes.
Engel AG
Handbook of Clinical Neurology, 2018
A novel Ile1455Thr variant in the skeletal muscle sodium channel alpha-subunit in a patient with a severe adult-onset proximal myopathy with electrical myotonia and a patient with mild paramyotonia phenotype.
Bednarz M et al.
Neuromuscular Disorders : Nmd, 2017
Clinical and genetic basis of congenital myasthenic syndromes.
Souza PV et al.
Arquivos De Neuro-psiquiatria, 2016
Mice with an NaV1.4 sodium channel null allele have latent myasthenia, without susceptibility to periodic paralysis.
Wu F et al.
Brain : a Journal of Neurology, 2016
A recessive Nav1.4 mutation underlies congenital myasthenic syndrome with periodic paralysis.
Habbout K et al.
Neurology, 2016
Skeletal muscle sodium channelopathies.
Nicole S et al.
Current Opinion in Neurology, 2015
Congenital myasthenic syndromes: pathogenesis, diagnosis, and treatment.
Engel AG et al.
The Lancet. Neurology, 2015
Channelopathies of skeletal muscle excitability.
Cannon SC
Comprehensive Physiology, 2015
Congenital myasthenic syndromes.
Eymard B et al.
Handbook of Clinical Neurology, 2013
Paramyotonia congenita: from clinical diagnosis to in silico protein modeling analysis.
Nurputra DK et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 2012
A sodium channel myotonia due to a novel SCN4A mutation accompanied by acquired autoimmune myasthenia gravis.
Kokunai Y et al.
Neuroscience Letters, 2012
Congenital myasthenic syndromes in 2012.
Engel AG
Current Neurology and Neuroscience Reports, 2012
Current status of the congenital myasthenic syndromes.
Engel AG
Neuromuscular Disorders : Nmd, 2012
[Genetic defects and disorders at the neuromuscular junction].
Ohno K
Brain and Nerve = Shinkei Kenkyu No Shinpo, 2011
Skeletal muscle na channel disorders.
Simkin D et al.
Frontiers in Pharmacology, 2011
Sodium channelopathies of skeletal muscle result from gain or loss of function.
Jurkat-Rott K et al.
Pflugers Archiv : European Journal of Physiology, 2010
Alternative splicing of Nav1.5: an electrophysiological comparison of 'neonatal' and 'adult' isoforms and critical involvement of a lysine residue.
Onkal R et al.
Journal of Cellular Physiology, 2008
Size matters: Erythromelalgia mutation S241T in Nav1.7 alters channel gating.
Lampert A et al.
The Journal of Biological Chemistry, 2006
Human skeletal muscle sodium channelopathies.
Vicart S et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2005
126th International Workshop: congenital myasthenic syndromes, 24-26 September 2004, Naarden, the Netherlands.
Beeson D et al.
Neuromuscular Disorders : Nmd, 2005
Current understanding of congenital myasthenic syndromes.
Engel AG et al.
Current Opinion in Pharmacology, 2005
Myasthenic syndrome caused by mutation of the SCN4A sodium channel.
Tsujino A et al.
Proceedings of the National Academy of Sciences of the United States of America, 2003
Congenital myasthenic syndromes: A diverse array of molecular targets.
Engel AG et al.
Journal of Neurocytology, 0
Diagnostics in skeletal muscle channelopathies.
Vicino A et al.
Expert Review of Molecular Diagnostics, 0