Associated Papers
Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.
Wei J et al.
Plos Biology, 2024
Genetic analysis of 37 cases with primary periodic paralysis in Chinese patients.
Zhao X et al.
Orphanet Journal of Rare Diseases, 2024
Optical measurement of gating pore currents in hypokalemic periodic paralysis model cells.
Kubota T et al.
Disease Models & Mechanisms, 2023
Mutations associated with hypokalemic periodic paralysis: from hotspot regions to complete analysis of CACNA1S and SCN4A genes.
Brugnoni R et al.
Neurogenetics, 2022
Co-existence of Congenital Adrenal Hyperplasia and Familial Hypokalemic Periodic Paralysis due to CYP21A2 and SCN4A Pathogenic Variants
Çetin T et al.
Journal of Clinical Research in Pediatric Endocrinology, 2021
New Challenges Resulting From the Loss of Function of Nav1.4 in Neuromuscular Diseases.
Nicole S et al.
Frontiers in Pharmacology, 2021
CACNA1S Arg528Cys mutation in a young Chinese man with thyrotoxic hypokalemic periodic paralysis.
Rezkalla N et al.
Clinical Case Reports, 2020
NaV1.4 DI-S4 periodic paralysis mutation R222W enhances inactivation and promotes leak current to attenuate action potentials and depolarize muscle fibers.
Bayless-Edwards L et al.
Scientific Reports, 2018
Structural basis for gating pore current in periodic paralysis.
Jiang D et al.
Nature, 2018
Review of the Diagnosis and Treatment of Periodic Paralysis.
Statland JM et al.
Muscle & Nerve, 2018
Gating Pore Currents in Sodium Channels.
Groome JR et al.
Handbook of Experimental Pharmacology, 2018
N1366S mutation of human skeletal muscle sodium channel causes paramyotonia congenita.
Ke Q et al.
The Journal of Physiology, 2017
Enhanced slow inactivation of the human skeletal muscle sodium channel causing normokalemic periodic paralysis.
Wu L et al.
Cellular and Molecular Neurobiology, 2014
Acetazolamide efficacy in hypokalemic periodic paralysis and the predictive role of genotype.
Matthews E et al.
Neurology, 2011
Hypokalemic periodic paralysis; two different genes responsible for similar clinical manifestations.
Kim H et al.
Korean Journal of Pediatrics, 2011
A sodium channel knockin mutant (NaV1.4-R669H) mouse model of hypokalemic periodic paralysis.
Wu F et al.
The Journal of Clinical Investigation, 2011
Skeletal muscle na channel disorders.
Simkin D et al.
Frontiers in Pharmacology, 2011
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
The genotype and clinical phenotype of Korean patients with familial hypokalemic periodic paralysis.
Kim JB et al.
Journal of Korean Medical Science, 2007
Hypokalemic periodic paralysis in a patient with acquired growth hormone deficiency.
Lanzi R et al.
Journal of Endocrinological Investigation, 2007
Gating defects of a novel Na+ channel mutant causing hypokalemic periodic paralysis.
Carle T et al.
Biochemical and Biophysical Research Communications, 2006
A Korean family of hypokalemic periodic paralysis with mutation in a voltage-gated calcium channel (R1239G).
Kim JB et al.
Journal of Korean Medical Science, 2005
New mutations of SCN4A cause a potassium-sensitive normokalemic periodic paralysis.
Vicart S et al.
Neurology, 2004
Thyrotoxic periodic paralysis associated with a mutation in the sodium channel gene SCN4A.
Lane AH et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2004
Mutation screening in Korean hypokalemic periodic paralysis patients: a novel SCN4A Arg672Cys mutation.
Kim MK et al.
Neuromuscular Disorders : Nmd, 2004
Mutation analysis of two patients with hypokalemic periodic paralysis and suspected malignant hyperthermia.
Marchant CL et al.
Muscle & Nerve, 2004
Lack of association of the potassium channel-associated peptide MiRP2-R83H variant with periodic paralysis.
Sternberg D et al.
Neurology, 2003
Genetic disorders of neuromuscular ion channels.
Kleopa KA et al.
Muscle & Nerve, 2002
Enhanced inactivation and pH sensitivity of Na(+) channel mutations causing hypokalaemic periodic paralysis type II.
Kuzmenkin A et al.
Brain : a Journal of Neurology, 2002
Sodium channel gene mutations in hypokalemic periodic paralysis: an uncommon cause in the UK.
Davies NP et al.
Neurology, 2001
The skeletal muscle channelopathies: basic science, clinical genetics and treatment.
Davies NP et al.
Current Opinion in Neurology, 2001
Sodium channel inactivation defects are associated with acetazolamide-exacerbated hypokalemic periodic paralysis.
Bendahhou S et al.
Annals of Neurology, 2001
Hypokalaemic periodic paralysis type 2 caused by mutations at codon 672 in the muscle sodium channel gene SCN4A.
Sternberg D et al.
Brain : a Journal of Neurology, 2001
Diagnostics in skeletal muscle channelopathies.
Vicino A et al.
Expert Review of Molecular Diagnostics, 0