Sodium channel gene defects in the periodic paralyses.
Abnormal Na+ currents that produce membrane depolarization have been associated with the episodes of muscle weakness that are the hallmark of the periodic paralyses. There is now strong evidence that various point mutations in the gene encoding the adult skeletal muscle voltage-dependent Na+ channel produce these abnormal currents, and are responsible for the expression of the disease phenotype.
Barchi
R L
RL
Mahoney Institute of Neurological Sciences, University of Pennsylvania School of Medicine, Philadelphia 19104.
D006801:Humans; D010243:Paralysis / Q000235:genetics* / Q000378:metabolism; D015222:Sodium Channels / Q000378:metabolism*
D015222:Sodium Channels