Normokalemic periodic paralysis with involuntary movements and generalized epilepsy associated with two novel mutations in SCN4A gene

Normokalemic periodic paralysis with involuntary movements and generalized epilepsy associated with two novel mutations in SCN4A gene

Mutations of skeletal muscle sodium channel a subunit (SCN4A) gene are associated with a group of allelic diseases, including periodic paralysis, paramyotonia congenital, sodium channel myotonia, and congenital myasthenic syndrome. Periodic paralysis is characterized by episodic attacks of flaccid weakness with the fluctuation of serum potassium, which are usually limited to skeletal muscles ow...

Novel mutations in human and mouse SCN4A implicate AMPK in myotonia and periodic paralysis

Mutations in the skeletal muscle channel (SCN4A), encoding the Nav1.4 voltage-gated sodium channel, are causative of a variety of muscle channelopathies, including non-dystrophic myotonias and periodic paralysis. The effects of many of these mutations on channel function have been characterized both in vitro and in vivo. However, little is known about the consequences of SCN4A mutations downstr...

A 32-year-old Man with Normokalemic Thyrotoxic Periodic Paralysis.

Thyrotoxic Periodic Paralysis (TPP) is a rare and life threatening condition commonly occurring in young Asian males. It is characterized by acute paralytic attacks and hypokalemia in association with thyrotoxicosis. Serum potassium levels may be normal in rare cases of TPP. The diagnosis of normokalemic TPP may be overlooked and/or delayed in most cases. Here, we describe a 32-year-old Iranian...

Novel Mutations in SCN4A Gene Cause Myotonia Congenita with Scoliosis

SCN4A-associated hypokalemic periodic paralysis merits a trial of acetazolamide.

Neurology S. L. Venance, K. Jurkat-Rott, F. Lehmann-Horn and R. Tawil SCN4A-associated hypokalemic periodic paralysis merits a trial of acetazolamide This information is current as of November 24, 2007 http://www.neurology.org/cgi/content/full/63/10/1977 located on the World Wide Web at: The online version of this article, along with updated information and services, is All rights reserved. Pri...