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Louis
Ptacek, PhD
Professor
Department of Neurology
University of California, San Francisco
School of Medicine
San Francisco, California
Channelopathies: Molecular
Basis of Episodic Nervous System
Dr. Ptacek's work has focused on studying
clinical phenotypes in families to map and clone the genes
responsible for various diseases. One focus of such work
is episodic neurological diseases. This interest grew
out of the mapping and cloning of a number of genes causing
periodic paralysis and nondystrophic myotonia, symptoms
that we proposed as a model for other electrical disorders
such as cardiac dysrhythmias, epilepsy, and migraine headaches.
The genes that he cloned all encode ion channels that
are responsible for regulating selective permeability
of muscle membranes to various ions. This group of disorders
was termed "channelopathies" and has come to encompass
not only these muscle diseases but also cardiac arrtiythmias,
epilepsy, and some migraine phenotypes. Dr. Ptacek's lab
has gone on to study the protein products encoded by these
genes using cellular electrophysiology. These experiments
are useful in proving functional consequences of disease-causing
mutations and to a general understanding of the relationship
of these channels. Efforts in this group of disorders
are expanding into disorders of the central nervous system,
including epilepsy and migraine headache.
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