Howard Hughes Medical Institute at The University of California, San Francisco

Contact Information:

Louis Ptacek
Primary Investigator
Howard Hughes Medical Institute
University of California San Francisco
Department of Neurology Box 2922
19B Mission Bay, Room 548F
1550 4th Street
San Francisco, CA 94143-2922
ljp@ucsf.edu

Phone: (415)-502-5614
Fax: (415)-502-5641

Patient appointments

Neuromuscular Disorders
400 Parnassus Ave.
Eighth Floor
San Francisco, CA 94143
Phone: (415) 353-2273
Fax: (415) 353-2898

About Us:

Our group has characterized the molecular and genetic basis of many episodic disorders of the nervous system. Many of the periodic paralyses and non-dystrophic myotonias occur as the result of mutations in ion channel genes. Our lab has laid the ground work for the group of disorders now called the "channelopathies". We've extended our work to other episodic phenomena like epilepsy, migraine and the paroxysmal dyskinesias. Andersen/Tawil syndrome (ATS) is a rare form of periodic paralysis that occurs along with cardiac arrhythmias and characteristic developmental features of the head and face and the distal limbs. We've cloned the gene responsible for a large proportion of ATS patients and characterized the physiological consequences of mutations in this gene. Ongoing work is focused on identifying additional ATS gene(s), generating animal models of ATS, and characterizing new ATS phenotypes.

Useful Links:

Howard Hughes Medical Institute

http://www.ucsf.edu/pibs/faculty/ptacek.html

http://www.ucsf.edu/neurosc/faculty/neuro_ptacek.htm

http://www.ucsf.edu/bms/faculty/ptacek.html

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