Associated Papers
Clinical and Genetic Reassessment in Patients With Clinically Diagnosed Hereditary Polyneuropathy.
Kodal LS et al.
European Journal of Neurology, 2025
ELUCIDATING THE DIFFERENTIAL IMPACTS OF EQUIVALENT GATING-CHARGE MUTATIONS IN VOLTAGE-GATED SODIUM CHANNELS.
Elhanafy E et al.
Biorxiv : the Preprint Server for Biology, 2024
Improving genetic diagnostics of skeletal muscle channelopathies.
Vivekanandam V et al.
Expert Review of Molecular Diagnostics, 2020
Myotonia congenita and periodic hypokalemia paralysis in a consanguineous marriage pedigree: Coexistence of a novel CLCN1 mutation and an SCN4A mutation.
Zhao C et al.
Plos One, 2020
Myotonia in a patient with a mutation in an S4 arginine residue associated with hypokalaemic periodic paralysis and a concomitant synonymous CLCN1 mutation.
Thor MG et al.
Scientific Reports, 2019
An Up-to-Date Overview of the Complexity of Genotype-Phenotype Relationships in Myotonic Channelopathies.
Morales F et al.
Frontiers in Neurology, 2019
Gating Pore Currents in Sodium Channels.
Groome JR et al.
Handbook of Experimental Pharmacology, 2018
Signature and Pathophysiology of Non-canonical Pores in Voltage-Dependent Cation Channels.
Held K et al.
Reviews of Physiology, Biochemistry and Pharmacology, 2016
Paralogue annotation identifies novel pathogenic variants in patients with Brugada syndrome and catecholaminergic polymorphic ventricular tachycardia.
Walsh R et al.
Journal of Medical Genetics, 2014
24136861 (PubMed )
Supplement: jmedgenet-2013-101917-s1.pdf
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