Associated Papers
Mapping structural distribution and gating-property impacts of disease-associated mutations in voltage-gated sodium channels.
Akbari Ahangar A et al.
Iscience, 2024
Gene variant effects across sodium channelopathies predict function and guide precision therapy.
Brunklaus A et al.
Brain : a Journal of Neurology, 2022
The gain of function SCN1A disorder spectrum: novel epilepsy phenotypes and therapeutic implications.
Brunklaus A et al.
Brain : a Journal of Neurology, 2022
Sodium channelopathies of skeletal muscle and brain.
Mantegazza M et al.
Physiological Reviews, 2021
Targeted Therapies for Skeletal Muscle Ion Channelopathies: Systematic Review and Steps Towards Precision Medicine.
Desaphy JF et al.
Journal of Neuromuscular Diseases, 2021
N1366S mutation of human skeletal muscle sodium channel causes paramyotonia congenita.
Ke Q et al.
The Journal of Physiology, 2017
Biophysical characterization of M1476I, a sodium channel founder mutation associated with cold-induced myotonia in French Canadians.
Zhao J et al.
The Journal of Physiology, 2012
A novel N440K sodium channel mutation causes myotonia with exercise-induced weakness--exclusion of CLCN1 exon deletion/duplication by MLPA.
Lehmann-Horn F et al.
Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology, 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
What causes paramyotonia in the United Kingdom? Common and new SCN4A mutations revealed.
Matthews E et al.
Neurology, 2008
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
Thr1313Met mutation in skeletal muscle sodium channels in a Japanese family with paramyotonia congenita.
Kinoshita M et al.
Internal Medicine (tokyo, Japan), 2003
De novo SCN1A mutations are a major cause of severe myoclonic epilepsy of infancy.
Claes L et al.
Human Mutation, 2003
Genetic disorders of neuromuscular ion channels.
Kleopa KA et al.
Muscle & Nerve, 2002
Mexiletine block of disease-associated mutations in S6 segments of the human skeletal muscle Na(+) channel.
Takahashi MP et al.
The Journal of Physiology, 2001
A new mutation in a family with cold-aggravated myotonia disrupts Na(+) channel inactivation.
Wu FF et al.
Neurology, 2001
Fast- and slow-gating modes of the sodium channel are altered by a paramyotonia congenita-linked mutation.
Moran O et al.
Journal of Bioenergetics and Biomembranes, 1998
Effects of temperature and mexiletine on the F1473S Na+ channel mutation causing paramyotonia congenita.
Fleischhauer R et al.
Pflugers Archiv : European Journal of Physiology, 1998
Transient weakness and compound muscle action potential decrement in myotonia congenita.
Deymeer F et al.
Muscle & Nerve, 1998
Human sodium channel gating defects caused by missense mutations in S6 segments associated with myotonia: S804F and V1293I.
Green DS et al.
The Journal of Physiology, 1998
Inactivation and secondary structure in the D4/S4-5 region of the SkM1 sodium channel.
Filatov GN et al.
The Journal of General Physiology, 1998
A critical role for the S4-S5 intracellular loop in domain IV of the sodium channel alpha-subunit in fast inactivation.
McPhee JC et al.
The Journal of Biological Chemistry, 1998
Phenotype variation and newcomers in ion channel disorders.
Bulman DE
Human Molecular Genetics, 1997
Hereditary dysfunction of voltage-gated sodium channels: from clinical phenotype to molecular mechanisms.
George AL
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 1996
Hereditary nondystrophic myotonias and periodic paralyses.
Lehmann-Horn F et al.
Current Opinion in Neurology, 1995
Differential effects of paramyotonia congenita mutations F1473S and F1705I on sodium channel gating.
Groome JR et al.
Channels (austin, Tex.), 0
Diagnostics in skeletal muscle channelopathies.
Vicino A et al.
Expert Review of Molecular Diagnostics, 0