Varaico: Literature-Extracted Genetic Variants

Gene:SCN4A
Variant:p.F1490L
Back to variants list

SCN4A

NM_000334.4:p.F1490L

Associated Papers

Enhanced slow inactivation of the human skeletal muscle sodium channel causing normokalemic periodic paralysis.

Wu L et al.

Cellular and Molecular Neurobiology, 2014

Genotype-phenotype correlation and therapeutic rationale in hyperkalemic periodic paralysis.

Jurkat-Rott K et al.

Neurotherapeutics : the Journal of the American Society for Experimental Neurotherapeutics, 2007

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

New mutations of SCN4A cause a potassium-sensitive normokalemic periodic paralysis.

Vicart S et al.

Neurology, 2004

Genetic disorders of neuromuscular ion channels.

Kleopa KA et al.

Muscle & Nerve, 2002

Slow inactivation in voltage-gated sodium channels: molecular substrates and contributions to channelopathies.

Vilin YY et al.

Cell Biochemistry and Biophysics, 2001

A double mutation in families with periodic paralysis defines new aspects of sodium channel slow inactivation.

Bendahhou S et al.

The Journal of Clinical Investigation, 2000

Diagnostics in skeletal muscle channelopathies.

Vicino A et al.

Expert Review of Molecular Diagnostics, 0

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."